Department of General Internal Medicine, University Hospitals Leuven, Leuven, Belgium; KU Leuven, Department of Microbiology, Immunology, and Transplantation, Laboratory of Clinical Infectious and Inflammatory Disorders, Leuven, Belgium.
KU Leuven, Department of Microbiology, Immunology and Transplantation, Immunogenetics Research Group, Leuven, Belgium; KU Leuven, Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, Leuven, Belgium.
Autoimmun Rev. 2021 Apr;20(4):102774. doi: 10.1016/j.autrev.2021.102774. Epub 2021 Feb 17.
Systemic autoinflammatory disorders comprise an expanding group of rare conditions. They are mediated by dysfunction of the innate immune system and share a core of phenotypic manifestations including recurrent attacks of fever, cutaneous signs, chest or abdominal pain, lymphadenopathy, vasculopathy, and musculoskeletal symptoms. Diagnosis is often established in childhood, but a growing number of adult patients are being recognized with systemic autoinflammatory disorders, including adult-onset disease. In this review, we provide a concise update on the pathophysiology, clinical presentation, and diagnostic approach of systemic autoinflammatory disorders with an emphasis on the adult patient population. Despite the recent advances in genetic testing, the diagnosis of autoinflammatory disease in adult patients is often based on a thorough knowledge of the clinical phenotype. Becoming acquainted with the clinical features of these rare disorders may assist in developing a high index of suspicion for autoinflammatory disease in patients presenting with unexplained episodes of fever or inflammation.
系统性自身炎症性疾病是一组不断扩展的罕见病症。它们由先天免疫系统功能障碍引起，具有一些共同的临床表现，包括反复发热、皮肤表现、胸痛或腹痛、淋巴结病、血管病变和肌肉骨骼症状。这些疾病的诊断通常在儿童时期确立，但越来越多的成年患者被诊断为系统性自身炎症性疾病，包括成人发病疾病。在这篇综述中，我们简要介绍了系统性自身炎症性疾病的病理生理学、临床表现和诊断方法，重点关注成年患者群体。尽管最近在基因检测方面取得了进展，但成年患者自身炎症性疾病的诊断通常基于对临床表型的深入了解。熟悉这些罕见疾病的临床特征可能有助于提高对出现不明原因发热或炎症的患者的自身炎症性疾病的怀疑指数。
