Article

Dercum disease (or adiposis dolorosa) is a rare condition of unknown etiology characterized by multiple painful lipomas localized throughout the body.^1,2 It typically presents in adults aged 35 to 50 years and is at least 5 times more common in women.³ It often is associated with comorbidities such as obesity, fatigue and weakness.¹ There currently are no approved treatments for Dercum disease, only therapies tried with little to no efficacy for symptom management, including analgesics, excision, liposuction,¹ lymphatic drainage,⁴ hypobaric pressure,⁵ and frequency rhythmic electrical modulation systems.⁶ For patients who continually develop widespread lesions, surgical excision is not feasible, which poses a therapeutic challenge. Deoxycholic acid (DCA), a bile acid that is approved to treat submental fat, disrupts the integrity of cell membranes, induces adipocyte lysis, and solubilizes fat when injected subcutaneously.⁷ We used DCA to mitigate pain and reduce lipoma size in patients with Dercum disease, which demonstrated lipoma reduction via ultrasonography in 3 patients.

Case Reports

Three patients presented to clinic with multiple painful subcutaneous nodules throughout several areas of the body and were screened using radiography. Ultrasonography demonstrated numerous lipomas consistent with Dercum disease. The lipomas were measured by ultrasonography to obtain 3-dimensional measurements of each lesion. The most painful lipomas identified by the patients were either treated with 2 mL of DCA (10 mg/mL) or served as a control with no treatment. Patients returned for symptom monitoring and repeat measurements of both treated and untreated lipomas. Two physicians with expertise in ultrasonography measured lesions in a blinded fashion. Photographs were obtained with patient consent.

Patient 1—A 45-year-old woman with a family history of lipomas was diagnosed with Dercum disease that was confirmed via ultrasonography. A painful 1.63×1.64×0.55-cm lipoma was measured on the volar aspect of the left forearm, and a 1.17×1.26×0.39-cm lipoma was measured on the volar aspect of the right wrist. At a follow-up visit 11 months later, 2 mL of DCA was administered to the lipoma on the volar aspect of the left forearm, while the lipoma on the volar aspect of the right wrist was monitored as an untreated control. Following the procedure, the patient reported 1 week of swelling and tenderness of the treated area. Repeat imaging 4 months after administration of DCA revealed reduction of the treated lesion to 0.80×1.48×0.60 cm and growth of the untreated lesion to 1.32×2.17×0.52 cm. The treated lipoma reduced in volume by 34.55%, while the lipoma in the untreated control increased in volume from its original measurement by 111.11% (Table). The patient also reported decreased pain in the treated area at all follow-up visits in the 1 year following the procedure.

Patient 2—A 42-year-old woman with Dercum disease received administration of 2 mL of DCA to a 1.90×1.70×0.90-cm lipoma of the lateral aspect of the left mid thigh and 2 mL of DCA to a 2.40×3.07×0.60-cm lipoma on the volar aspect of the right forearm 2 weeks later. A 1.18×0.91×0.45-cm lipoma of the volar aspect of the left forearm was monitored as an untreated control. The patient reported bruising and discoloration a few weeks following the procedure. At subsequent 1-month and 3-month follow-ups, the patient reported induration in the volar aspect of the right forearm and noticeable reduction in size of the lesion in the lateral aspect of the left mid thigh. At the 6-month follow-up, the patient reported reduction in size of both lesions and improvement of the previously noted side effects. Repeat ultrasonography approximately 6 months after administration of DCA demonstrated reduction of the treated lesion on the lateral aspect of the left mid thigh to 0.92×0.96×0.57 cm and the volar aspect of the right forearm to 1.56×2.18×0.79 cm, with growth of the untreated lesion on the volar aspect of the left forearm to 1.37×1.11×0.39 cm. The treated lipomas reduced in volume by 68.42% and 41.25%, respectively, and the untreated control increased in volume by 22.08% (Table).

Patient 3—A 75-year-old woman with a family history of lipomas was diagnosed with Dercum disease verified by ultrasonography. The patient was administered 2 mL of DCA to a 2.65×3.19×0.71-cm lipoma of the volar aspect of the left forearm. A 1.66×2.02×0.38-cm lipoma of the lateral aspect of the right forearm was monitored as an untreated control. Following the procedure, the patient reported initial swelling that persisted for a few weeks followed by notable pain relief and a decrease in lipoma size. At 2-month follow-up, the patient reported no pain or other adverse effects, while repeat imaging demonstrated reduction of the treated lesion on the volar aspect of the left forearm to 2.13×2.56×0.75 cm and growth of the untreated lesion on the lateral aspect of the right forearm to 1.95×2.05×0.37 cm. The treated lipoma reduced in volume by 30.29%, and the untreated control increased in volume by 15.05% (Table).

Comment

Deoxycholic acid is a bile acid naturally found in the body that helps to emulsify and solubilize fats in the intestines. When injected subcutaneously, DCA becomes an adipolytic agent that induces inflammation and targets adipose degradation by macrophages, and it has been manufactured to reduce submental fat.⁷ Off-label use of DCA has been explored for nonsurgical body contouring and lipomas with promising results in some cases; however, these prior studies have been limited by the lack of quantitative objective measurements to effectively demonstrate the impact of treatment.^8,9

We present 3 patients who requested treatment for numerous painful lipomas. Given the extent of their disease, surgical options were not feasible, and the patients opted to try a nonsurgical alternative. In each case, the painful lipomas that were chosen for treatment were injected with 2 mL of DCA. Injection-associated symptoms included swelling, tenderness, discoloration, and induration, which resolved over a period of months. Patient 1 had a treated lipoma that reduced in volume by approximately 35%, while the control continued to grow and doubled in volume. In patient 2, the treated lesion on the lateral aspect of the mid thigh reduced in volume by almost 70%, and the treated lesion on the volar aspect of the right forearm reduced in volume by more than 40%, while the control grew by more than 20%. In patient 3, the volume of the treated lipoma decreased by 30%, and the control increased by 15%. The follow-up interval was shortest in patient 3—2 months as opposed to 11 months and 6 months for patients 1 and 2, respectively; therefore, more progress may be seen in patient 3 with more time. Interestingly, a change in shape of the lipoma was noted in patient 3 (Figure)—an increase in its depth while the center became anechoic, which is a sign of hollowing in the center due to the saponification of fat and a possible cause for the change from an elliptical to a more spherical or doughnutlike shape. Intralesional administration of DCA may offer patients with extensive lipomas, such as those seen in patients with Dercum disease, an alternative, less-invasive option to assist with pain and tumor burden when excision is not feasible. Although treatments with DCA can be associated with side effects, including pain, swelling, bruising, erythema, induration, and numbness, all 3 of our patients had ultimate mitigation of pain and reduction in lipoma size within months of the injection. Additional studies should be explored to determine the optimal dose and frequency of administration of DCA that could benefit patients with Dercum disease.

Dercum disease (or adiposis dolorosa) is a rare condition of unknown etiology characterized by multiple painful lipomas localized throughout the body.^1,2 It typically presents in adults aged 35 to 50 years and is at least 5 times more common in women.³ It often is associated with comorbidities such as obesity, fatigue and weakness.¹ There currently are no approved treatments for Dercum disease, only therapies tried with little to no efficacy for symptom management, including analgesics, excision, liposuction,¹ lymphatic drainage,⁴ hypobaric pressure,⁵ and frequency rhythmic electrical modulation systems.⁶ For patients who continually develop widespread lesions, surgical excision is not feasible, which poses a therapeutic challenge. Deoxycholic acid (DCA), a bile acid that is approved to treat submental fat, disrupts the integrity of cell membranes, induces adipocyte lysis, and solubilizes fat when injected subcutaneously.⁷ We used DCA to mitigate pain and reduce lipoma size in patients with Dercum disease, which demonstrated lipoma reduction via ultrasonography in 3 patients.

Case Reports

Three patients presented to clinic with multiple painful subcutaneous nodules throughout several areas of the body and were screened using radiography. Ultrasonography demonstrated numerous lipomas consistent with Dercum disease. The lipomas were measured by ultrasonography to obtain 3-dimensional measurements of each lesion. The most painful lipomas identified by the patients were either treated with 2 mL of DCA (10 mg/mL) or served as a control with no treatment. Patients returned for symptom monitoring and repeat measurements of both treated and untreated lipomas. Two physicians with expertise in ultrasonography measured lesions in a blinded fashion. Photographs were obtained with patient consent.

Patient 1—A 45-year-old woman with a family history of lipomas was diagnosed with Dercum disease that was confirmed via ultrasonography. A painful 1.63×1.64×0.55-cm lipoma was measured on the volar aspect of the left forearm, and a 1.17×1.26×0.39-cm lipoma was measured on the volar aspect of the right wrist. At a follow-up visit 11 months later, 2 mL of DCA was administered to the lipoma on the volar aspect of the left forearm, while the lipoma on the volar aspect of the right wrist was monitored as an untreated control. Following the procedure, the patient reported 1 week of swelling and tenderness of the treated area. Repeat imaging 4 months after administration of DCA revealed reduction of the treated lesion to 0.80×1.48×0.60 cm and growth of the untreated lesion to 1.32×2.17×0.52 cm. The treated lipoma reduced in volume by 34.55%, while the lipoma in the untreated control increased in volume from its original measurement by 111.11% (Table). The patient also reported decreased pain in the treated area at all follow-up visits in the 1 year following the procedure.

Patient 2—A 42-year-old woman with Dercum disease received administration of 2 mL of DCA to a 1.90×1.70×0.90-cm lipoma of the lateral aspect of the left mid thigh and 2 mL of DCA to a 2.40×3.07×0.60-cm lipoma on the volar aspect of the right forearm 2 weeks later. A 1.18×0.91×0.45-cm lipoma of the volar aspect of the left forearm was monitored as an untreated control. The patient reported bruising and discoloration a few weeks following the procedure. At subsequent 1-month and 3-month follow-ups, the patient reported induration in the volar aspect of the right forearm and noticeable reduction in size of the lesion in the lateral aspect of the left mid thigh. At the 6-month follow-up, the patient reported reduction in size of both lesions and improvement of the previously noted side effects. Repeat ultrasonography approximately 6 months after administration of DCA demonstrated reduction of the treated lesion on the lateral aspect of the left mid thigh to 0.92×0.96×0.57 cm and the volar aspect of the right forearm to 1.56×2.18×0.79 cm, with growth of the untreated lesion on the volar aspect of the left forearm to 1.37×1.11×0.39 cm. The treated lipomas reduced in volume by 68.42% and 41.25%, respectively, and the untreated control increased in volume by 22.08% (Table).

Patient 3—A 75-year-old woman with a family history of lipomas was diagnosed with Dercum disease verified by ultrasonography. The patient was administered 2 mL of DCA to a 2.65×3.19×0.71-cm lipoma of the volar aspect of the left forearm. A 1.66×2.02×0.38-cm lipoma of the lateral aspect of the right forearm was monitored as an untreated control. Following the procedure, the patient reported initial swelling that persisted for a few weeks followed by notable pain relief and a decrease in lipoma size. At 2-month follow-up, the patient reported no pain or other adverse effects, while repeat imaging demonstrated reduction of the treated lesion on the volar aspect of the left forearm to 2.13×2.56×0.75 cm and growth of the untreated lesion on the lateral aspect of the right forearm to 1.95×2.05×0.37 cm. The treated lipoma reduced in volume by 30.29%, and the untreated control increased in volume by 15.05% (Table).

Comment

Deoxycholic acid is a bile acid naturally found in the body that helps to emulsify and solubilize fats in the intestines. When injected subcutaneously, DCA becomes an adipolytic agent that induces inflammation and targets adipose degradation by macrophages, and it has been manufactured to reduce submental fat.⁷ Off-label use of DCA has been explored for nonsurgical body contouring and lipomas with promising results in some cases; however, these prior studies have been limited by the lack of quantitative objective measurements to effectively demonstrate the impact of treatment.^8,9

We present 3 patients who requested treatment for numerous painful lipomas. Given the extent of their disease, surgical options were not feasible, and the patients opted to try a nonsurgical alternative. In each case, the painful lipomas that were chosen for treatment were injected with 2 mL of DCA. Injection-associated symptoms included swelling, tenderness, discoloration, and induration, which resolved over a period of months. Patient 1 had a treated lipoma that reduced in volume by approximately 35%, while the control continued to grow and doubled in volume. In patient 2, the treated lesion on the lateral aspect of the mid thigh reduced in volume by almost 70%, and the treated lesion on the volar aspect of the right forearm reduced in volume by more than 40%, while the control grew by more than 20%. In patient 3, the volume of the treated lipoma decreased by 30%, and the control increased by 15%. The follow-up interval was shortest in patient 3—2 months as opposed to 11 months and 6 months for patients 1 and 2, respectively; therefore, more progress may be seen in patient 3 with more time. Interestingly, a change in shape of the lipoma was noted in patient 3 (Figure)—an increase in its depth while the center became anechoic, which is a sign of hollowing in the center due to the saponification of fat and a possible cause for the change from an elliptical to a more spherical or doughnutlike shape. Intralesional administration of DCA may offer patients with extensive lipomas, such as those seen in patients with Dercum disease, an alternative, less-invasive option to assist with pain and tumor burden when excision is not feasible. Although treatments with DCA can be associated with side effects, including pain, swelling, bruising, erythema, induration, and numbness, all 3 of our patients had ultimate mitigation of pain and reduction in lipoma size within months of the injection. Additional studies should be explored to determine the optimal dose and frequency of administration of DCA that could benefit patients with Dercum disease.

Dercum disease (or adiposis dolorosa) is a rare condition of unknown etiology characterized by multiple painful lipomas localized throughout the body.^1,2 It typically presents in adults aged 35 to 50 years and is at least 5 times more common in women.³ It often is associated with comorbidities such as obesity, fatigue and weakness.¹ There currently are no approved treatments for Dercum disease, only therapies tried with little to no efficacy for symptom management, including analgesics, excision, liposuction,¹ lymphatic drainage,⁴ hypobaric pressure,⁵ and frequency rhythmic electrical modulation systems.⁶ For patients who continually develop widespread lesions, surgical excision is not feasible, which poses a therapeutic challenge. Deoxycholic acid (DCA), a bile acid that is approved to treat submental fat, disrupts the integrity of cell membranes, induces adipocyte lysis, and solubilizes fat when injected subcutaneously.⁷ We used DCA to mitigate pain and reduce lipoma size in patients with Dercum disease, which demonstrated lipoma reduction via ultrasonography in 3 patients.

Case Reports

Three patients presented to clinic with multiple painful subcutaneous nodules throughout several areas of the body and were screened using radiography. Ultrasonography demonstrated numerous lipomas consistent with Dercum disease. The lipomas were measured by ultrasonography to obtain 3-dimensional measurements of each lesion. The most painful lipomas identified by the patients were either treated with 2 mL of DCA (10 mg/mL) or served as a control with no treatment. Patients returned for symptom monitoring and repeat measurements of both treated and untreated lipomas. Two physicians with expertise in ultrasonography measured lesions in a blinded fashion. Photographs were obtained with patient consent.

Patient 1—A 45-year-old woman with a family history of lipomas was diagnosed with Dercum disease that was confirmed via ultrasonography. A painful 1.63×1.64×0.55-cm lipoma was measured on the volar aspect of the left forearm, and a 1.17×1.26×0.39-cm lipoma was measured on the volar aspect of the right wrist. At a follow-up visit 11 months later, 2 mL of DCA was administered to the lipoma on the volar aspect of the left forearm, while the lipoma on the volar aspect of the right wrist was monitored as an untreated control. Following the procedure, the patient reported 1 week of swelling and tenderness of the treated area. Repeat imaging 4 months after administration of DCA revealed reduction of the treated lesion to 0.80×1.48×0.60 cm and growth of the untreated lesion to 1.32×2.17×0.52 cm. The treated lipoma reduced in volume by 34.55%, while the lipoma in the untreated control increased in volume from its original measurement by 111.11% (Table). The patient also reported decreased pain in the treated area at all follow-up visits in the 1 year following the procedure.

Patient 2—A 42-year-old woman with Dercum disease received administration of 2 mL of DCA to a 1.90×1.70×0.90-cm lipoma of the lateral aspect of the left mid thigh and 2 mL of DCA to a 2.40×3.07×0.60-cm lipoma on the volar aspect of the right forearm 2 weeks later. A 1.18×0.91×0.45-cm lipoma of the volar aspect of the left forearm was monitored as an untreated control. The patient reported bruising and discoloration a few weeks following the procedure. At subsequent 1-month and 3-month follow-ups, the patient reported induration in the volar aspect of the right forearm and noticeable reduction in size of the lesion in the lateral aspect of the left mid thigh. At the 6-month follow-up, the patient reported reduction in size of both lesions and improvement of the previously noted side effects. Repeat ultrasonography approximately 6 months after administration of DCA demonstrated reduction of the treated lesion on the lateral aspect of the left mid thigh to 0.92×0.96×0.57 cm and the volar aspect of the right forearm to 1.56×2.18×0.79 cm, with growth of the untreated lesion on the volar aspect of the left forearm to 1.37×1.11×0.39 cm. The treated lipomas reduced in volume by 68.42% and 41.25%, respectively, and the untreated control increased in volume by 22.08% (Table).

Patient 3—A 75-year-old woman with a family history of lipomas was diagnosed with Dercum disease verified by ultrasonography. The patient was administered 2 mL of DCA to a 2.65×3.19×0.71-cm lipoma of the volar aspect of the left forearm. A 1.66×2.02×0.38-cm lipoma of the lateral aspect of the right forearm was monitored as an untreated control. Following the procedure, the patient reported initial swelling that persisted for a few weeks followed by notable pain relief and a decrease in lipoma size. At 2-month follow-up, the patient reported no pain or other adverse effects, while repeat imaging demonstrated reduction of the treated lesion on the volar aspect of the left forearm to 2.13×2.56×0.75 cm and growth of the untreated lesion on the lateral aspect of the right forearm to 1.95×2.05×0.37 cm. The treated lipoma reduced in volume by 30.29%, and the untreated control increased in volume by 15.05% (Table).

Comment

Deoxycholic acid is a bile acid naturally found in the body that helps to emulsify and solubilize fats in the intestines. When injected subcutaneously, DCA becomes an adipolytic agent that induces inflammation and targets adipose degradation by macrophages, and it has been manufactured to reduce submental fat.⁷ Off-label use of DCA has been explored for nonsurgical body contouring and lipomas with promising results in some cases; however, these prior studies have been limited by the lack of quantitative objective measurements to effectively demonstrate the impact of treatment.^8,9

We present 3 patients who requested treatment for numerous painful lipomas. Given the extent of their disease, surgical options were not feasible, and the patients opted to try a nonsurgical alternative. In each case, the painful lipomas that were chosen for treatment were injected with 2 mL of DCA. Injection-associated symptoms included swelling, tenderness, discoloration, and induration, which resolved over a period of months. Patient 1 had a treated lipoma that reduced in volume by approximately 35%, while the control continued to grow and doubled in volume. In patient 2, the treated lesion on the lateral aspect of the mid thigh reduced in volume by almost 70%, and the treated lesion on the volar aspect of the right forearm reduced in volume by more than 40%, while the control grew by more than 20%. In patient 3, the volume of the treated lipoma decreased by 30%, and the control increased by 15%. The follow-up interval was shortest in patient 3—2 months as opposed to 11 months and 6 months for patients 1 and 2, respectively; therefore, more progress may be seen in patient 3 with more time. Interestingly, a change in shape of the lipoma was noted in patient 3 (Figure)—an increase in its depth while the center became anechoic, which is a sign of hollowing in the center due to the saponification of fat and a possible cause for the change from an elliptical to a more spherical or doughnutlike shape. Intralesional administration of DCA may offer patients with extensive lipomas, such as those seen in patients with Dercum disease, an alternative, less-invasive option to assist with pain and tumor burden when excision is not feasible. Although treatments with DCA can be associated with side effects, including pain, swelling, bruising, erythema, induration, and numbness, all 3 of our patients had ultimate mitigation of pain and reduction in lipoma size within months of the injection. Additional studies should be explored to determine the optimal dose and frequency of administration of DCA that could benefit patients with Dercum disease.

The Diagnosis: Neonatal-Onset Multisystem Inflammatory Disorder (NOMID)

The punch biopsy demonstrated a predominantly deep but somewhat superficial, periadnexal, neutrophilic and eosinophilic infiltrate (Figure). The eruption resolved 3 days later with supportive treatment, including appropriate wound care. Genetic analysis revealed an autosomal-dominant NLR family pyrin domain containing 3 gene, NLRP3, de novo variant associated with neonatal-onset multisystem inflammatory disorder (NOMID). Additional workup to characterize our patient’s inflammatory profile revealed elevated IL-18, CD3, CD4, S100A12, and S100A8/A9 levels. On day 48 of life, she was started on anakinra, an IL-1 inhibitor, at a dose of 1 mg/kg subcutaneously, which eventually was titrated to 10 mg/kg at hospital discharge. Hearing screenings were within normal limits.

Cryopyrin-associated periodic syndromes (CAPS) consist of 3 rare, IL-1–associated, autoinflammatory disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and NOMID (also known as chronic infantile neurologic cutaneous and articular syndrome). These conditions result from a sporadic or autosomal-dominant gain-of-function mutations in a single gene, NLRP3, on chromosome 1q44. NLRP3 encodes for cryopyrin, an important component of an IL-1 and IL-18 activating inflammasome.¹ The most severe manifestation of CAPS is NOMID, which typically presents at birth as a migratory urticarial eruption, growth failure, myalgia, fever, and abnormal facial features, including frontal bossing, saddle-shaped nose, and protruding eyes.² The illness also can manifest with hepatosplenomegaly, lymphadenopathy, uveitis, sensorineural hearing loss, cerebral atrophy, and other neurologic manifestations.³ A diagnosis of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was less likely given that our patient remained afebrile and did not show signs of lipodystrophy and persistent violaceous eyelid swelling. Both FCAS and MWS are less severe forms of CAPS when compared to NOMID. Familial cold autoinflammatory syndrome was less likely given the absence of the typical periodic fever pattern associated with the condition and severity of our patient’s symptoms. Muckle-Wells syndrome typically presents in adolescence with symptoms of FCAS, painful urticarial plaques, and progressive sensorinueral hearing loss. Tumor necrosis factor receptor–associated periodic fever (TRAPS) usually is associated with episodic fevers, abdominal pain, periorbital edema, migratory erythema, and arthralgia.^1,3,4

Diagnostic criteria for CAPS include elevated inflammatory markers and serum amyloid, plus at least 2 of the typical CAPS symptoms: urticarial rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis, and skeletal abnormalities.⁴ The sensitivity and specificity of these diagnostic criteria are 84% and 91%, respectively. Additional findings that can be seen but are not part of the diagnostic criteria include intermittent fever, transient joint swelling, bony overgrowths, uveitis, optic disc edema, impaired growth, and hepatosplenomegaly.⁵ Laboratory findings may reveal leukocytosis, eosinophilia, anemia, and/or thrombocytopenia.^3,5

Genetic testing, skin biopsies, ophthalmic examinations, neuroimaging, joint radiography, cerebrospinal fluid tests, and hearing examinations can be performed for confirmation of diagnosis and evaluation of systemic complications.⁴ A skin biopsy may reveal a neutrophilic infiltrate. Ophthalmic examination can demonstrate uveitis and optic disk edema. Neuroimaging may reveal cerebral atrophy or ventricular dilation. Lastly, joint radiography can be used to evaluate for the presence of premature long bone ossification or osseous overgrowth.⁴

In summary, NOMID is a multisystemic disorder with cutaneous manifestations. Early recognition of this entity is important given the severe sequelae and available efficacious therapy. Dermatologists should be aware of these manifestations, as dermatologic consultation and a skin biopsy may aid in diagnosis.

The Diagnosis: Neonatal-Onset Multisystem Inflammatory Disorder (NOMID)

The punch biopsy demonstrated a predominantly deep but somewhat superficial, periadnexal, neutrophilic and eosinophilic infiltrate (Figure). The eruption resolved 3 days later with supportive treatment, including appropriate wound care. Genetic analysis revealed an autosomal-dominant NLR family pyrin domain containing 3 gene, NLRP3, de novo variant associated with neonatal-onset multisystem inflammatory disorder (NOMID). Additional workup to characterize our patient’s inflammatory profile revealed elevated IL-18, CD3, CD4, S100A12, and S100A8/A9 levels. On day 48 of life, she was started on anakinra, an IL-1 inhibitor, at a dose of 1 mg/kg subcutaneously, which eventually was titrated to 10 mg/kg at hospital discharge. Hearing screenings were within normal limits.

Cryopyrin-associated periodic syndromes (CAPS) consist of 3 rare, IL-1–associated, autoinflammatory disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and NOMID (also known as chronic infantile neurologic cutaneous and articular syndrome). These conditions result from a sporadic or autosomal-dominant gain-of-function mutations in a single gene, NLRP3, on chromosome 1q44. NLRP3 encodes for cryopyrin, an important component of an IL-1 and IL-18 activating inflammasome.¹ The most severe manifestation of CAPS is NOMID, which typically presents at birth as a migratory urticarial eruption, growth failure, myalgia, fever, and abnormal facial features, including frontal bossing, saddle-shaped nose, and protruding eyes.² The illness also can manifest with hepatosplenomegaly, lymphadenopathy, uveitis, sensorineural hearing loss, cerebral atrophy, and other neurologic manifestations.³ A diagnosis of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was less likely given that our patient remained afebrile and did not show signs of lipodystrophy and persistent violaceous eyelid swelling. Both FCAS and MWS are less severe forms of CAPS when compared to NOMID. Familial cold autoinflammatory syndrome was less likely given the absence of the typical periodic fever pattern associated with the condition and severity of our patient’s symptoms. Muckle-Wells syndrome typically presents in adolescence with symptoms of FCAS, painful urticarial plaques, and progressive sensorinueral hearing loss. Tumor necrosis factor receptor–associated periodic fever (TRAPS) usually is associated with episodic fevers, abdominal pain, periorbital edema, migratory erythema, and arthralgia.^1,3,4

Diagnostic criteria for CAPS include elevated inflammatory markers and serum amyloid, plus at least 2 of the typical CAPS symptoms: urticarial rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis, and skeletal abnormalities.⁴ The sensitivity and specificity of these diagnostic criteria are 84% and 91%, respectively. Additional findings that can be seen but are not part of the diagnostic criteria include intermittent fever, transient joint swelling, bony overgrowths, uveitis, optic disc edema, impaired growth, and hepatosplenomegaly.⁵ Laboratory findings may reveal leukocytosis, eosinophilia, anemia, and/or thrombocytopenia.^3,5

Genetic testing, skin biopsies, ophthalmic examinations, neuroimaging, joint radiography, cerebrospinal fluid tests, and hearing examinations can be performed for confirmation of diagnosis and evaluation of systemic complications.⁴ A skin biopsy may reveal a neutrophilic infiltrate. Ophthalmic examination can demonstrate uveitis and optic disk edema. Neuroimaging may reveal cerebral atrophy or ventricular dilation. Lastly, joint radiography can be used to evaluate for the presence of premature long bone ossification or osseous overgrowth.⁴

In summary, NOMID is a multisystemic disorder with cutaneous manifestations. Early recognition of this entity is important given the severe sequelae and available efficacious therapy. Dermatologists should be aware of these manifestations, as dermatologic consultation and a skin biopsy may aid in diagnosis.

The Diagnosis: Neonatal-Onset Multisystem Inflammatory Disorder (NOMID)

The punch biopsy demonstrated a predominantly deep but somewhat superficial, periadnexal, neutrophilic and eosinophilic infiltrate (Figure). The eruption resolved 3 days later with supportive treatment, including appropriate wound care. Genetic analysis revealed an autosomal-dominant NLR family pyrin domain containing 3 gene, NLRP3, de novo variant associated with neonatal-onset multisystem inflammatory disorder (NOMID). Additional workup to characterize our patient’s inflammatory profile revealed elevated IL-18, CD3, CD4, S100A12, and S100A8/A9 levels. On day 48 of life, she was started on anakinra, an IL-1 inhibitor, at a dose of 1 mg/kg subcutaneously, which eventually was titrated to 10 mg/kg at hospital discharge. Hearing screenings were within normal limits.

Cryopyrin-associated periodic syndromes (CAPS) consist of 3 rare, IL-1–associated, autoinflammatory disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and NOMID (also known as chronic infantile neurologic cutaneous and articular syndrome). These conditions result from a sporadic or autosomal-dominant gain-of-function mutations in a single gene, NLRP3, on chromosome 1q44. NLRP3 encodes for cryopyrin, an important component of an IL-1 and IL-18 activating inflammasome.¹ The most severe manifestation of CAPS is NOMID, which typically presents at birth as a migratory urticarial eruption, growth failure, myalgia, fever, and abnormal facial features, including frontal bossing, saddle-shaped nose, and protruding eyes.² The illness also can manifest with hepatosplenomegaly, lymphadenopathy, uveitis, sensorineural hearing loss, cerebral atrophy, and other neurologic manifestations.³ A diagnosis of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was less likely given that our patient remained afebrile and did not show signs of lipodystrophy and persistent violaceous eyelid swelling. Both FCAS and MWS are less severe forms of CAPS when compared to NOMID. Familial cold autoinflammatory syndrome was less likely given the absence of the typical periodic fever pattern associated with the condition and severity of our patient’s symptoms. Muckle-Wells syndrome typically presents in adolescence with symptoms of FCAS, painful urticarial plaques, and progressive sensorinueral hearing loss. Tumor necrosis factor receptor–associated periodic fever (TRAPS) usually is associated with episodic fevers, abdominal pain, periorbital edema, migratory erythema, and arthralgia.^1,3,4

Diagnostic criteria for CAPS include elevated inflammatory markers and serum amyloid, plus at least 2 of the typical CAPS symptoms: urticarial rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis, and skeletal abnormalities.⁴ The sensitivity and specificity of these diagnostic criteria are 84% and 91%, respectively. Additional findings that can be seen but are not part of the diagnostic criteria include intermittent fever, transient joint swelling, bony overgrowths, uveitis, optic disc edema, impaired growth, and hepatosplenomegaly.⁵ Laboratory findings may reveal leukocytosis, eosinophilia, anemia, and/or thrombocytopenia.^3,5

Genetic testing, skin biopsies, ophthalmic examinations, neuroimaging, joint radiography, cerebrospinal fluid tests, and hearing examinations can be performed for confirmation of diagnosis and evaluation of systemic complications.⁴ A skin biopsy may reveal a neutrophilic infiltrate. Ophthalmic examination can demonstrate uveitis and optic disk edema. Neuroimaging may reveal cerebral atrophy or ventricular dilation. Lastly, joint radiography can be used to evaluate for the presence of premature long bone ossification or osseous overgrowth.⁴

In summary, NOMID is a multisystemic disorder with cutaneous manifestations. Early recognition of this entity is important given the severe sequelae and available efficacious therapy. Dermatologists should be aware of these manifestations, as dermatologic consultation and a skin biopsy may aid in diagnosis.

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020

Key clinical point: Age, body mass index (BMI), chronic-plaque psoriasis, hospitalization for psoriasis, use of systemic therapy, and genital and nail involvement in psoriasis were the risk factors for psoriatic arthritis (PsA) occurrence in patients with psoriasis.

Major finding: Overall, 226 patients were diagnosed with PsA, with an incidence of 1.9 cases per 100 patient-years. Age between 40-59 years (P < .001), BMI ≥25 (P  =  .015), genital psoriasis (P  =  .027), nail psoriasis (P  =  .038), classic chronic-plaque psoriasis (P  =  .014), previous hospitalization for psoriasis (P < .001), previous use of systemic therapy for psoriasis (P  =  .003), and use of conventional nonbiologic agents (P  =  .014) were significantly associated with PsA occurrence.

Study details: This cohort study included 8895 patients with a confirmed diagnosis of psoriasis from the PsoReal registry.

Disclosures: This study was sponsored by Bristol Myers Squibb. K Heidemeyer and L Naldi declared receiving honoraria from various sources, including AbbVie, Almirall, or Bristol Myers Squibb.

Source: Heidemeyer K et al. Variables associated with joint involvement and development of a prediction rule for arthritis in psoriasis patients. An analysis of the Italian PsoReal database. J Am Acad Dermatol. 2023 (Mar 23). Doi: 10.1016/j.jaad.2023.02.059

Key clinical point: Age, body mass index (BMI), chronic-plaque psoriasis, hospitalization for psoriasis, use of systemic therapy, and genital and nail involvement in psoriasis were the risk factors for psoriatic arthritis (PsA) occurrence in patients with psoriasis.

Major finding: Overall, 226 patients were diagnosed with PsA, with an incidence of 1.9 cases per 100 patient-years. Age between 40-59 years (P < .001), BMI ≥25 (P  =  .015), genital psoriasis (P  =  .027), nail psoriasis (P  =  .038), classic chronic-plaque psoriasis (P  =  .014), previous hospitalization for psoriasis (P < .001), previous use of systemic therapy for psoriasis (P  =  .003), and use of conventional nonbiologic agents (P  =  .014) were significantly associated with PsA occurrence.

Study details: This cohort study included 8895 patients with a confirmed diagnosis of psoriasis from the PsoReal registry.

Disclosures: This study was sponsored by Bristol Myers Squibb. K Heidemeyer and L Naldi declared receiving honoraria from various sources, including AbbVie, Almirall, or Bristol Myers Squibb.

Source: Heidemeyer K et al. Variables associated with joint involvement and development of a prediction rule for arthritis in psoriasis patients. An analysis of the Italian PsoReal database. J Am Acad Dermatol. 2023 (Mar 23). Doi: 10.1016/j.jaad.2023.02.059

Key clinical point: Age, body mass index (BMI), chronic-plaque psoriasis, hospitalization for psoriasis, use of systemic therapy, and genital and nail involvement in psoriasis were the risk factors for psoriatic arthritis (PsA) occurrence in patients with psoriasis.

Major finding: Overall, 226 patients were diagnosed with PsA, with an incidence of 1.9 cases per 100 patient-years. Age between 40-59 years (P < .001), BMI ≥25 (P  =  .015), genital psoriasis (P  =  .027), nail psoriasis (P  =  .038), classic chronic-plaque psoriasis (P  =  .014), previous hospitalization for psoriasis (P < .001), previous use of systemic therapy for psoriasis (P  =  .003), and use of conventional nonbiologic agents (P  =  .014) were significantly associated with PsA occurrence.

Study details: This cohort study included 8895 patients with a confirmed diagnosis of psoriasis from the PsoReal registry.

Disclosures: This study was sponsored by Bristol Myers Squibb. K Heidemeyer and L Naldi declared receiving honoraria from various sources, including AbbVie, Almirall, or Bristol Myers Squibb.

Source: Heidemeyer K et al. Variables associated with joint involvement and development of a prediction rule for arthritis in psoriasis patients. An analysis of the Italian PsoReal database. J Am Acad Dermatol. 2023 (Mar 23). Doi: 10.1016/j.jaad.2023.02.059

Key clinical point: Patients with psoriatic arthritis (PsA) had lower serum vitamin D (25(OH)D₃) levels and bone mineral density (BMD) compared with the general population; however, serum vitamin D levels were higher in patients with PsA vs  psoriasis.

Major finding: The serum 25(OH)D₃ levels in patients with PsA were lower than those in control individuals (mean difference [MD] −6.42; P < .01) but higher than those in patients with psoriasis (MD 2.37; P < .01). Lumbar spine BMD was significantly lower in patients with PsA vs  control individuals (MD −0.08).

Study details: This was a meta-analysis of nine studies, of which four studies included patients with PsA (n = 264) and control individuals from the general population (n = 287) and five studies included patients with PsA (n = 225) and psoriasis (n = 391).

Disclosures: This study was supported by the project “Digitalization and improvement of nutritional care for patients with chronic diseases” cofinanced by the European Regional Development Fund. The authors declared no conflicts of interest.

Source: Radić M et al. Vitamin D in psoriatic arthritis – A systematic review and meta-analysis. Semin Arthritis Rheum. 2023;60:152200 (Apr 1). Doi: 10.1016/j.semarthrit.2023.152200

Key clinical point: Patients with psoriatic arthritis (PsA) had lower serum vitamin D (25(OH)D₃) levels and bone mineral density (BMD) compared with the general population; however, serum vitamin D levels were higher in patients with PsA vs  psoriasis.

Major finding: The serum 25(OH)D₃ levels in patients with PsA were lower than those in control individuals (mean difference [MD] −6.42; P < .01) but higher than those in patients with psoriasis (MD 2.37; P < .01). Lumbar spine BMD was significantly lower in patients with PsA vs  control individuals (MD −0.08).

Study details: This was a meta-analysis of nine studies, of which four studies included patients with PsA (n = 264) and control individuals from the general population (n = 287) and five studies included patients with PsA (n = 225) and psoriasis (n = 391).

Disclosures: This study was supported by the project “Digitalization and improvement of nutritional care for patients with chronic diseases” cofinanced by the European Regional Development Fund. The authors declared no conflicts of interest.

Source: Radić M et al. Vitamin D in psoriatic arthritis – A systematic review and meta-analysis. Semin Arthritis Rheum. 2023;60:152200 (Apr 1). Doi: 10.1016/j.semarthrit.2023.152200

Key clinical point: Patients with psoriatic arthritis (PsA) had lower serum vitamin D (25(OH)D₃) levels and bone mineral density (BMD) compared with the general population; however, serum vitamin D levels were higher in patients with PsA vs  psoriasis.

Major finding: The serum 25(OH)D₃ levels in patients with PsA were lower than those in control individuals (mean difference [MD] −6.42; P < .01) but higher than those in patients with psoriasis (MD 2.37; P < .01). Lumbar spine BMD was significantly lower in patients with PsA vs  control individuals (MD −0.08).

Study details: This was a meta-analysis of nine studies, of which four studies included patients with PsA (n = 264) and control individuals from the general population (n = 287) and five studies included patients with PsA (n = 225) and psoriasis (n = 391).

Disclosures: This study was supported by the project “Digitalization and improvement of nutritional care for patients with chronic diseases” cofinanced by the European Regional Development Fund. The authors declared no conflicts of interest.

Source: Radić M et al. Vitamin D in psoriatic arthritis – A systematic review and meta-analysis. Semin Arthritis Rheum. 2023;60:152200 (Apr 1). Doi: 10.1016/j.semarthrit.2023.152200

Key clinical point: Patients with psoriatic arthritis (PsA) are at a higher risk for overall cancer compared with the general population, highlighting the importance of regular cancer screening among these patients.

Major finding: The risk for overall cancer was slightly higher among patients with PsA vs  age- and sex-matched control individuals (adjusted hazard ratio [aHR] 1.20; 95% CI 1.02-1.41), with the risk being mainly driven by non-melanoma skin cancer (aHR 3.64; 95% CI 1.61-8.23), lymphoma (aHR 2.63, 95% CI 1.30-5.30), and thyroid cancer (aHR 1.83, 95% CI 1.18-2.85).

Study details: The data come from a population-based cohort study including 4688 patients with newly diagnosed PsA and 46,880 age- and sex-matched control individuals without a history of cancer and other coexisting autoimmune diseases from the general population.

Disclosures: This study did not report the source of funding. The authors did not declare conflicts of interest.

Source: Eun Y et al. Risk of cancer in Korean patients with psoriatic arthritis: A nationwide population-based cohort study. RMD Open. 2023;9(1):e002874 (Mar 23). Doi: 10.1136/rmdopen-2022-002874

Key clinical point: Patients with psoriatic arthritis (PsA) are at a higher risk for overall cancer compared with the general population, highlighting the importance of regular cancer screening among these patients.

Major finding: The risk for overall cancer was slightly higher among patients with PsA vs  age- and sex-matched control individuals (adjusted hazard ratio [aHR] 1.20; 95% CI 1.02-1.41), with the risk being mainly driven by non-melanoma skin cancer (aHR 3.64; 95% CI 1.61-8.23), lymphoma (aHR 2.63, 95% CI 1.30-5.30), and thyroid cancer (aHR 1.83, 95% CI 1.18-2.85).

Study details: The data come from a population-based cohort study including 4688 patients with newly diagnosed PsA and 46,880 age- and sex-matched control individuals without a history of cancer and other coexisting autoimmune diseases from the general population.

Disclosures: This study did not report the source of funding. The authors did not declare conflicts of interest.

Source: Eun Y et al. Risk of cancer in Korean patients with psoriatic arthritis: A nationwide population-based cohort study. RMD Open. 2023;9(1):e002874 (Mar 23). Doi: 10.1136/rmdopen-2022-002874

Key clinical point: Patients with psoriatic arthritis (PsA) are at a higher risk for overall cancer compared with the general population, highlighting the importance of regular cancer screening among these patients.

Major finding: The risk for overall cancer was slightly higher among patients with PsA vs  age- and sex-matched control individuals (adjusted hazard ratio [aHR] 1.20; 95% CI 1.02-1.41), with the risk being mainly driven by non-melanoma skin cancer (aHR 3.64; 95% CI 1.61-8.23), lymphoma (aHR 2.63, 95% CI 1.30-5.30), and thyroid cancer (aHR 1.83, 95% CI 1.18-2.85).

Study details: The data come from a population-based cohort study including 4688 patients with newly diagnosed PsA and 46,880 age- and sex-matched control individuals without a history of cancer and other coexisting autoimmune diseases from the general population.

Disclosures: This study did not report the source of funding. The authors did not declare conflicts of interest.

Source: Eun Y et al. Risk of cancer in Korean patients with psoriatic arthritis: A nationwide population-based cohort study. RMD Open. 2023;9(1):e002874 (Mar 23). Doi: 10.1136/rmdopen-2022-002874

Key clinical point: Age at onset of psoriatic arthritis (PsA) influences disease characteristics, with individuals developing PsA at older age having worse functionality and greater structural damage but a lower frequency of enthesitis and dactylitis.

Major finding: Patients with late vs early onset PsA showed greater structural damage (odds ratio [OR] 3.3; 95% CI 1.3-8.1), higher frequency of arthritis in upper limbs (OR 2.8; 95% CI 1.0-7.7), greater loss of functionality (OR 1.3; 95% CI 1.0-1.6), and lower frequency of enthesitis (OR 0.1; 95% CI 0-0.5) and sacroiliitis (OR 0.06; 95% CI 0-0.5).

Study details: This observational cross-sectional study included 231 patients with PsA with <10 years of disease duration from the REGISPONSER and RESPONDIA registries who were categorized into the early onset (≤40 years) or late onset (≥60 years) group depending on age at PsA symptom onset.

Disclosures: This study did not report the source of funding. The authors declared no conflicts of interest.

Source: Puche-Larrubia MÁ et al. Differences between early vs  late-onset of psoriatic arthritis: Data from the respondia and regisponser registries. Joint Bone Spine. 2023;105563 (Mar 17). Doi: 10.1016/j.jbspin.2023.105563

Key clinical point: Age at onset of psoriatic arthritis (PsA) influences disease characteristics, with individuals developing PsA at older age having worse functionality and greater structural damage but a lower frequency of enthesitis and dactylitis.

Major finding: Patients with late vs early onset PsA showed greater structural damage (odds ratio [OR] 3.3; 95% CI 1.3-8.1), higher frequency of arthritis in upper limbs (OR 2.8; 95% CI 1.0-7.7), greater loss of functionality (OR 1.3; 95% CI 1.0-1.6), and lower frequency of enthesitis (OR 0.1; 95% CI 0-0.5) and sacroiliitis (OR 0.06; 95% CI 0-0.5).

Study details: This observational cross-sectional study included 231 patients with PsA with <10 years of disease duration from the REGISPONSER and RESPONDIA registries who were categorized into the early onset (≤40 years) or late onset (≥60 years) group depending on age at PsA symptom onset.

Disclosures: This study did not report the source of funding. The authors declared no conflicts of interest.

Source: Puche-Larrubia MÁ et al. Differences between early vs  late-onset of psoriatic arthritis: Data from the respondia and regisponser registries. Joint Bone Spine. 2023;105563 (Mar 17). Doi: 10.1016/j.jbspin.2023.105563

Key clinical point: Age at onset of psoriatic arthritis (PsA) influences disease characteristics, with individuals developing PsA at older age having worse functionality and greater structural damage but a lower frequency of enthesitis and dactylitis.

Major finding: Patients with late vs early onset PsA showed greater structural damage (odds ratio [OR] 3.3; 95% CI 1.3-8.1), higher frequency of arthritis in upper limbs (OR 2.8; 95% CI 1.0-7.7), greater loss of functionality (OR 1.3; 95% CI 1.0-1.6), and lower frequency of enthesitis (OR 0.1; 95% CI 0-0.5) and sacroiliitis (OR 0.06; 95% CI 0-0.5).

Study details: This observational cross-sectional study included 231 patients with PsA with <10 years of disease duration from the REGISPONSER and RESPONDIA registries who were categorized into the early onset (≤40 years) or late onset (≥60 years) group depending on age at PsA symptom onset.

Disclosures: This study did not report the source of funding. The authors declared no conflicts of interest.

Source: Puche-Larrubia MÁ et al. Differences between early vs  late-onset of psoriatic arthritis: Data from the respondia and regisponser registries. Joint Bone Spine. 2023;105563 (Mar 17). Doi: 10.1016/j.jbspin.2023.105563

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Vitamin D deficiency in patients with psoriatic arthritis (PsA) had worse impact on the retention rate of the first biological disease-modifying antirheumatic drug (bDMARD) and response to methotrexate and was associated with severe disease course in terms of sacroiliitis.

Major finding: The risk for discontinuation of the first bDMARD (hazard ratio [HR] 2.129; P  =  .011) and methotrexate discontinuation because of therapy failure (HR 2.168; P  =  .002) were significantly higher among patients with 25(OH)D level of ≤20 vs  20-30 and ≥30 ng/mL, with the prevalence of sacroiliitis being significantly higher in patients with 25(OH)D level of ≤20 vs  ≥30 ng/mL (P  =  .0001).

Study details: Findings are from a retrospective study including 233 patients with PsA.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Rotondo C et al. Vitamin D status and psoriatic arthritis: Association with the risk for sacroiliitis and influence on the retention rate of methotrexate monotherapy and first biological drug survival—A retrospective study. Int J Mol Sci. 2023;24(6):5368 (Mar 10). Doi: 10.3390/ijms24065368

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020

Key clinical point: Women with endometriosis seemed prone to migraine, with menstrual-related migraine being the most common type and dysmenorrhea and dysuria being more frequent when endometriosis and migraine coexisted.

Major finding: Overall, 53.4% of women had migraine, of which 64.3% had migraine related to menstruation and 35.7% had non-menstrual migraine. Typical endometriosis-related pain symptoms such as dysmenorrhea (94.3% vs 82.0%; P  =  .03) and dysuria (27.1% vs 9.8%; P < .01) occurred significantly more frequently in patients with vs without migraine.

Study details: This was a prospective, nested case-control study including 131 women with endometriosis with or without migraine.

Disclosures: This study was supported by a grant from Ministero della Salute, Italy. The authors declared no conflicts of interest.

Source: Pasquini B, Seravalli V, et al. Endometriosis and the diagnosis of different forms of migraine: an association with dysmenorrhea. Reprod Biomed Online. 2023 (Apr 6). Doi: 10.1016/j.rbmo.2023.03.020