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伴有类风湿关节炎的家族性冷性自身炎症综合征

Familial cold autoinflammatory syndrome with rheumatoid arthritis.

作者信息

Walterscheid Brooke, Nguyen Jeannie, Gadwala Swetha, Shome Goutam, Tarbox Michelle, Tarbox James A

机构信息

School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.

Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, Texas.

出版信息

Proc (Bayl Univ Med Cent). 2021 May 10;34(5):603-605. doi: 10.1080/08998280.2021.1913042. eCollection 2021 Sep.

Abstract

Familial cold autoinflammatory syndrome (FCAS) is a cryopyrin-associated periodic syndrome that presents with episodic fever, skin rash, and joint pain after exposure to cold temperatures. Although the diagnosis is often singular, there are several instances of concurrent underlying autoimmune pathologies with either rheumatoid arthritis (RA) or amyloidosis. Because symptoms of the two entities overlap, it can be difficult to address a potential dual diagnosis of FCAS and an autoimmune disorder. We found seven previously reported cases of FCAS and amyloidosis and five cases of FCAS and RA and present another case of an FCAS-RA dual diagnosis.

摘要

家族性冷性自身炎症综合征(FCAS)是一种与冷吡啉相关的周期性综合征,在接触低温后出现发作性发热、皮疹和关节疼痛。尽管诊断通常较为明确,但也有几例同时合并潜在自身免疫性疾病,如类风湿关节炎(RA)或淀粉样变性。由于这两种疾病的症状重叠,因此很难处理FCAS与自身免疫性疾病的潜在双重诊断。我们发现了7例先前报道的FCAS合并淀粉样变性的病例以及5例FCAS合并RA的病例,并报告了另一例FCAS-RA双重诊断的病例。

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