Schnitzler syndrome and Schnitzler-like syndromes  

作　　者：Cong-Qiu Chu 

机构地区：[1]Division of Arthritis and Rheumatic Diseases,Oregon Health&Science University and Rheumatology Section,VA Portland Health Care System,Portland,OR 97239,USA

出　　处：《Chinese Medical Journal》2022年第10期1190-1202,共13页中华医学杂志（英文版）

基　　金：Dr. Chu’s work was supported by the Innovative Award from the American College of Rheumatology Research Foundation and the VA Merit Review grant(No. I01BX005195)。

摘　　要：Schnitzler syndrome is a rare disease of adult-onset with main features including chronic urticarial rash, recurrent fever, arthralgia or arthritis, monoclonal gammopathy of undetermined significance (MGUS), and marked systemic inflammation. Schnitzler syndrome is often underdiagnosed. Patients with Schnitzler syndrome may present to dermatologists and allergists for urticaria, hematologists for MGUS, or rheumatologists for arthritis. It is important to recognize Schnitzler syndrome for its remarkable response to interleukin (IL)-1 blockade. Besides, many cases of Schnitzler-like syndromes do not meet the diagnostic criteria of classical Schnitzler syndrome but display excellent response to IL-1 inhibitors. The overly produced IL-1 is the result of a somatic mosaic gain of function mutation ofNLRP3 (nucleotide-binding oligomerization domain [NOD]-like receptor [NLR] family pyrin domain containing 3) gene in some patients with Schnitzler-like syndromes. Inflammasome activation is evident in patients with classical Schnitzler syndrome although noNLRP3 gene mutation is identified. Collectively, Schnitzler syndrome and Schnitzler-like syndromes represent a spectrum of IL-1 mediated adult-onset autoinflammatory diseases.

关 键 词：Schnitzler syndrome Schnitzler syndrome-like conditions INTERLEUKIN-1 Chronic urticarial rash 

分 类 号：R593.2[医药卫生—内科学]