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双重自身免疫:一例抗MDA5皮肌炎患者先后发生系统性红斑狼疮的病例报告

Dual Autoimmunity: A Case Report of the Sequential Development of Systemic Lupus Erythematosus in a Patient With Anti-MDA5 Dermatomyositis.

作者信息

López Lorena A, Vilá Luis M

机构信息

Division of Rheumatology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

出版信息

Cureus. 2025 May 7;17(5):e83686. doi: 10.7759/cureus.83686. eCollection 2025 May.

DOI:10.7759/cureus.83686
PMID:40486387
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12143970/
Abstract

Dermatomyositis (DM) and systemic lupus erythematosus (SLE) are chronic rheumatic diseases that can affect multiple organ systems. Both conditions share several similarities, including pathogenic mechanisms, clinical manifestations, and pharmacological treatments. However, the coexistence of DM and SLE is rarely encountered in clinical practice. Here, we present the case of a 42-year-old woman who developed DM, characterized by proximal muscle weakness in the upper and lower extremities, dysphagia, heliotrope rash, periungual erythema, erythematous skin lesions on the neck and arms, elevated serum aldolase and creatine phosphokinase (CPK) levels, and positive anti-melanoma differentiation-associated gene 5 (MDA5) antibodies. A skin biopsy confirmed the diagnosis of dermatomyositis. She was initially treated with high-dose corticosteroids and mycophenolic acid, resulting in early improvement. However, three months after the onset of DM, she presented with persistent DM manifestations and the development of new-onset pancytopenia, arthritis, discoid lesions, positive antinuclear antibodies, and C3 hypocomplementemia, consistent with SLE. Rituximab and tacrolimus were added to her regimen of glucocorticoids and mycophenolic acid, and she responded well to therapy, with resolution of all clinical manifestations by four months after starting rituximab and tacrolimus. At the 18-month follow-up, she remained in complete clinical remission from both DM and SLE. This case underscores the complexity of autoimmune diseases. Although the coexistence of DM and SLE is uncommon, healthcare providers should maintain a high index of suspicion in patients presenting with atypical symptoms or overlapping features. It also emphasizes the challenge of managing multiple autoimmune conditions concurrently.

摘要

皮肌炎(DM)和系统性红斑狼疮(SLE)是可影响多个器官系统的慢性风湿性疾病。这两种疾病有若干相似之处,包括发病机制、临床表现和药物治疗。然而,在临床实践中,DM和SLE并存的情况很少见。在此,我们报告一例42岁女性患者,她患上了皮肌炎,其特征为四肢近端肌无力、吞咽困难、向阳疹、甲周红斑、颈部和手臂的皮肤红斑性病变、血清醛缩酶和肌酸磷酸激酶(CPK)水平升高以及抗黑色素瘤分化相关基因5(MDA5)抗体阳性。皮肤活检确诊为皮肌炎。她最初接受了高剂量皮质类固醇和霉酚酸治疗,病情早期有所改善。然而,在皮肌炎发病三个月后,她出现了持续的皮肌炎表现,并出现了新发全血细胞减少、关节炎、盘状皮损、抗核抗体阳性和C3补体降低,符合系统性红斑狼疮。利妥昔单抗和他克莫司被添加到她的糖皮质激素和霉酚酸治疗方案中,她对治疗反应良好,在开始使用利妥昔单抗和他克莫司四个月后所有临床表现均消失。在18个月的随访中,她的皮肌炎和系统性红斑狼疮均完全临床缓解。该病例强调了自身免疫性疾病的复杂性。虽然DM和SLE并存并不常见,但医疗服务提供者对出现非典型症状或重叠特征的患者应保持高度怀疑。这也凸显了同时管理多种自身免疫性疾病的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/af2b69c6a3b7/cureus-0017-00000083686-i06.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/af2b69c6a3b7/cureus-0017-00000083686-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/509aca664188/cureus-0017-00000083686-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/4cd061018f65/cureus-0017-00000083686-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/fc9523af7c72/cureus-0017-00000083686-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/05549ff48610/cureus-0017-00000083686-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/12b0b6d7ebe2/cureus-0017-00000083686-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/192c/12143970/af2b69c6a3b7/cureus-0017-00000083686-i06.jpg

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