Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease | Orphanet Journal of Rare Diseases | Full Text

Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease

• FS van LeersumEmail authorView ORCID ID profile,
• J Potjewijd,
• M van Geel,
• PM Steijlen and
• M Vreeburg

Orphanet Journal of Rare Diseases201914:151

https://doi.org/10.1186/s13023-019-1117-2

©  The Author(s). 2019

• Received: 10 September 2017
• Accepted: 4 June 2019
• Published: 22 June 2019

Abstract

Schnitzler’s syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet fully understood, a role for interleukin-1 seems apparent. While this presumed link between interleukin-1 and the monoclonal gammopathy is not yet elucidated, a mutual factor in pathophysiology however seems likely. Here we present a novel hypothesis of a shared pathophysiologic mechanism between Schitzler’s syndrome and monoclonal gammopathy.

Keywords

• Schnitzler’s syndrome
• Waldenströms macroglobulinemia
• Autoinflammatory disease
• Hypothesis
• Interleukin-1
• MYD88
• NLRP3