Case Reports in Rheumatology最新文献

Refractory Anti-HMGCR Necrotizing Myopathy With Progressive Hypercapnic Respiratory Failure Responsive to a JAK Inhibitor. 对JAK抑制剂有反应的难治性抗hmgcr坏死性肌病伴进行性高碳酸血症性呼吸衰竭。

Case Reports in Rheumatology Pub Date : 2026-10-18 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/7268721

N Huang, T B George, L Christopher-Stine, A Nicolas, C Oddis, D P Ascherman, V M Liarski

{"title":"Refractory Anti-HMGCR Necrotizing Myopathy With Progressive Hypercapnic Respiratory Failure Responsive to a JAK Inhibitor.","authors":"N Huang, T B George, L Christopher-Stine, A Nicolas, C Oddis, D P Ascherman, V M Liarski","doi":"10.1155/crrh/7268721","DOIUrl":"10.1155/crrh/7268721","url":null,"abstract":"Immune-mediated necrotizing myopathy (IMNM) associated with 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies is a rare condition often associated with statin use. It typically presents with proximal weakness and markedly elevated creatine phosphokinase (CPK) levels and is often refractory, requiring long-term immunotherapy. Respiratory involvement is uncommon but can be life-threatening. Herein, we report the case of a 73-year-old woman with long-standing anti-HMGCR antibody-positive IMNM, refractory to glucocorticoids, methotrexate, azathioprine, intravenous immunoglobulin (IVIg), rituximab, and plasma exchange (PLEX), who presented with progressive hypercapnic respiratory failure. Despite ongoing treatment with IVIg, PLEX, and high-dose glucocorticoids, the patient's respiratory function worsened, and she required mechanical ventilation (MV). The addition of tofacitinib, a Janus kinase (JAK) inhibitor, coincided with marked clinical improvement, discontinuation of MV, and successful transition to room air. The patient continued to do well on this therapy, with improvement in muscle strength until outpatient discharge. The clinical benefit of JAK inhibition has been reported in dermatomyositis, overlap myositis, and anti-MDA5-positive disease, particularly in refractory cases with pulmonary or systemic involvement-but has not been described in the setting of refractory IMNM. In our patient, who had exhausted multiple conventional therapies and PLEX, the rapid clinical improvement after JAK inhibition strongly suggests a therapeutic effect and highlights the need for future studies of JAK inhibitors in IMNM.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"7268721"},"PeriodicalIF":0.0,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13678112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hemophagocytic Lymphohistiocytosis Thought to Be due to Undifferentiated Connective Tissue Disease Treated With Ruxolitinib: A Case Report. 鲁索利替尼治疗未分化结缔组织病引起的噬血细胞淋巴组织细胞增多症1例报告

Case Reports in Rheumatology Pub Date : 2026-10-18 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/9165820

Emily Vachon, Heena Birbal Jain, Suzanna Kitten

{"title":"Hemophagocytic Lymphohistiocytosis Thought to Be due to Undifferentiated Connective Tissue Disease Treated With Ruxolitinib: A Case Report.","authors":"Emily Vachon, Heena Birbal Jain, Suzanna Kitten","doi":"10.1155/crrh/9165820","DOIUrl":"10.1155/crrh/9165820","url":null,"abstract":"Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening, systemic inflammatory syndrome. Cases without an identifiable acquired trigger are referred to as secondary HLH. In this report, we describe the case of a 24 year-old woman whose underlying cause of HLH was particularly difficult to determine. Her condition was initially suspected to be due to lamotrigine use but is now thought to be a result of undifferentiated connective tissue disease. During the patient's prolonged and complex hospital stay, she received the diagnosis of secondary HLH. Discontinuing lamotrigine, a drug that rarely causes HLH, did not improve her condition. The patient was tested for infectious and malignant conditions with negative results. Further workup revealed a positive ANA and bilateral MCP tenosynovitis, with negative specific antibodies, suggesting an undefined rheumatologic process. A number of conventional therapies did not show clear benefit, including etoposide, high-dose steroids, rituximab, and plasmapheresis. The patient remained in critical condition until she began treatment with ruxolitinib, with which she remains stable more than 5 years later. Ruxolitinib has shown some success in treating HLH in preliminary studies, but it is still considered a salvage therapy. This case illustrates the successful use of ruxolitinib in a patient with HLH likely due to undifferentiated connective tissue disease.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"9165820"},"PeriodicalIF":0.0,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13677135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Of Pompe and Circumstance: A Case Review of Late Onset Pompe Disease in a 52-Year-Old Male. 庞贝病与环境：一例52岁男性迟发性庞贝病病例回顾。

Case Reports in Rheumatology Pub Date : 2026-10-15 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/8684758

Jace Lehnhof, Jonathan Lin, Miten Vasa

引用次数: 0

A Case of Eosinophilic Granulomatosis With Polyangiitis Presenting With Conjunctival Lesions During Treatment With IL-5 Inhibitors. 嗜酸性肉芽肿病合并多血管炎1例，在使用IL-5抑制剂治疗期间出现结膜病变。

Case Reports in Rheumatology Pub Date : 2026-10-07 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/9989981

Shin-Ichiro Ohmura, Soma Fukami, Kazuhisa Uemura, Yoshiro Otsuki

引用次数: 0

A Rare Autoimmune Triad: Coexistence of Systemic Lupus Erythematosus, Sjögren's Syndrome, and Ankylosing Spondylitis: A Case Report. 一种罕见的自身免疫性三联征：系统性红斑狼疮、Sjögren综合征和强直性脊柱炎共存：1例报告。

Case Reports in Rheumatology Pub Date : 2026-10-07 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/2532559

Gianna Sagona, Frank Schwartz, Molly Nguyen, Saad Tariq

{"title":"A Rare Autoimmune Triad: Coexistence of Systemic Lupus Erythematosus, Sjögren's Syndrome, and Ankylosing Spondylitis: A Case Report.","authors":"Gianna Sagona, Frank Schwartz, Molly Nguyen, Saad Tariq","doi":"10.1155/crrh/2532559","DOIUrl":"10.1155/crrh/2532559","url":null,"abstract":"Systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), and ankylosing spondylitis (AS) are distinct immune-mediated diseases with different classification frameworks and usual treatment approaches. Coexistence of all three disorders in a single patient is rare and creates diagnostic and therapeutic challenges. We report a 40-year-old woman with longstanding SLE, SS associated with SLE, and subsequently recognized axial spondyloarthritis (axSpA)/AS. The patient fulfilled the 2019 ACR/EULAR classification criteria for SLE (total score ≥ 10), the 2016 ACR/EULAR classification criteria for primary SS (total score ≥ 4), and the 2009 ASAS classification criteria for axSpA through both the imaging and clinical arms. Conventional treatment options were limited by prior gastrointestinal bleeding with NSAIDs and concern for drug-induced lupus-like syndromes with TNF inhibitors. The patient remained stable on hydroxychloroquine 200 mg daily and was enrolled in a Phase 2 SLE clinical trial evaluating a JAK inhibitor. Treatment assignment was unknown during the blinded period; during the unblinded continuation phase, she was confirmed to be receiving upadacitinib 15 mg daily. Over a 6-month duration of confirmed upadacitinib exposure, clinical improvement in lupus- and sicca-related symptoms were observed, and follow-up MRI showed resolution of previously documented sacroiliitis. Although causality cannot be established from a single uncontrolled observation, the clinical and imaging improvement during confirmed upadacitinib exposure is hypothesis-generating and suggests that shared inflammatory pathways may warrant further investigation in selected overlap cases.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"2532559"},"PeriodicalIF":0.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Addition of Intravenous Immunoglobulin in Refractory Cutaneous Polyarteritis Nodosa: A Case Report. 静脉注射免疫球蛋白治疗难治性皮肤结节性多动脉炎1例。

Case Reports in Rheumatology Pub Date : 2026-10-06 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/4646918

Fabio Kohlmann, Daniela Odehnal, Laura Buchtala, Anna Kernder, Xenofon Baraliakos

{"title":"Addition of Intravenous Immunoglobulin in Refractory Cutaneous Polyarteritis Nodosa: A Case Report.","authors":"Fabio Kohlmann, Daniela Odehnal, Laura Buchtala, Anna Kernder, Xenofon Baraliakos","doi":"10.1155/crrh/4646918","DOIUrl":"10.1155/crrh/4646918","url":null,"abstract":"Background: Cutaneous polyarteritis nodosa (cPAN) is a rare necrotizing vasculitis affecting medium-sized skin vessels and may be refractory to standard immunosuppressive therapies.Case presentation: We report a 23-year-old male with HLA-B27-positive enthesitis-associated arthritis (ERA), which was reclassified during the disease course and is currently in clinical remission under interleukin-17 inhibition, and reading epilepsy, presenting with histologically confirmed cPAN. Despite multiple treatments, including methotrexate, corticosteroid pulses, tumor necrosis factor-α (TNF-α) inhibitors, and tocilizumab, the patient developed persistent painful livedo reticularis-like lesions with palpable subcutaneous nodules and systemic symptoms. Intravenous immunoglobulin (IVIG) was initiated at 1.5 g/kg per cycle (administered over three consecutive days; total dose ∼100 g per cycle) and repeated every eight weeks, followed by a clinically meaningful response after the first cycle and complete resolution of symptoms within one month.Conclusion: The addition of IVIG may represent an effective escalation option for refractory cPAN. Further studies are needed to clarify its role in this rare vasculitis.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"4646918"},"PeriodicalIF":0.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13639839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Use of Rituximab in a Sjogren's Disease-Associated Inflammatory Pseudotumor: A Case Report. 利妥昔单抗治疗干燥病相关炎性假瘤1例

Case Reports in Rheumatology Pub Date : 2026-09-25 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/9145050

Vivian Shing, Lewis Wesselius, Melissa Stanton, Staci Beamer, Tanya Rath, Vivek Nagaraja

{"title":"Use of Rituximab in a Sjogren's Disease-Associated Inflammatory Pseudotumor: A Case Report.","authors":"Vivian Shing, Lewis Wesselius, Melissa Stanton, Staci Beamer, Tanya Rath, Vivek Nagaraja","doi":"10.1155/crrh/9145050","DOIUrl":"10.1155/crrh/9145050","url":null,"abstract":"Inflammatory pseudotumors are uncommon but benign tumors that consist of a proliferation of inflammatory and spindle cells, and they are a rare occurrence in Sjogren's disease (SjD). We report a rare case of a SjD-associated inflammatory pseudotumor in the pleural space, which caused mass effect-related discomfort in this patient. A 74-year-old female patient with an extensive history of SjD presented with chronic neck and back pain and inflammatory arthralgias. Further imaging showed a right-sided, paraspinal soft-tissue mass in the pleural space, raising concern for a possible malignancy. The tumor histopathology revealed a blend of spindle cells, inflammatory infiltrate, and fibrous tissue, and she was eventually diagnosed with an inflammatory pseudotumor. She was initially treated with corticosteroids, which shrank the tumor. However, steroid tapering resulted in the reoccurrence of arthralgias. She was then initiated on rituximab, resulting in an excellent clinical outcome and continued shrinkage of the pseudotumor. This case suggests that rituximab is a possible consideration in the treatment of SjD-related inflammatory pseudotumors and inflammatory arthralgias, especially when continuous corticosteroid therapy is not ideal.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"9145050"},"PeriodicalIF":0.0,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13613280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149058476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dose-Escalated Upadacitinib for Refractory Myositis in Anti-Jo-1-Positive Antisynthetase Syndrome: A Case Report. 剂量递增的Upadacitinib治疗抗jo -1阳性抗合成酶综合征难治性肌炎1例报告。

Case Reports in Rheumatology Pub Date : 2026-09-17 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/5972090

Yuji Kukida, Hironori Inoue

引用次数: 0

Navigating the Unknown: Scleroderma Renal Crisis and a Fatal Cardiac Complication in a Young Patient With MCTD With Coexisting Anti-U3 RNP and Anti-RNA Polymerase III Antibodies. 导航未知：硬皮病肾危机和致命心脏并发症的年轻MCTD患者共存的抗u3 RNP和抗rna聚合酶III抗体。

Case Reports in Rheumatology Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/5033806

Tiago Reyes-Castro, Amir Nabizadeh, Rawad Nasr, Linh Ngo

引用次数: 0

Crowned Dens Syndrome: A Case Report Describing Refractory Symptoms. 冠齿综合征：1例难治性症状报告

Case Reports in Rheumatology Pub Date : 2026-08-28 eCollection Date: 2026-01-01 DOI: 10.1155/crrh/9005573

Maha Rauf, Victor Y Kuo, Elaine Cheung, Vishnu Bharani, Samuel Lai

引用次数: 0