Non-canonical manifestations of familial Mediterranean fever: a changing paradigm

Clin Rheumatol. 2015 Sep;34(9):1503-11. doi: 10.1007/s10067-015-2916-z. Epub 2015 Mar 13.

Abstract

Paroxysmal crises of fever and systemic inflammation herald familial Mediterranean fever (FMF), considered as the archetype of all inherited systemic autoinflammatory diseases. Inflammatory bouts are characterized by short-term and self-limited abdominal, thoracic, and/or articular symptoms which subside spontaneously. Erysipelas-like findings, orchitis, and different patterns of myalgia may appear in a minority of patients. In recent years, many non-classical manifestations have been reported in the clinical context of FMF, such as vasculitides and thrombotic manifestations, neurologic and sensory organ abnormalities, gastrointestinal diseases, and even macrophage activation syndrome. As FMF left unrecognized and untreated is ominously complicated by the occurrence of AA-amyloidosis, it is highly desirable that diagnosis of this autoinflammatory disorder with its multiple clinical faces can be contemplated at whatever age and brought forward.

Publication types

  • Review

MeSH terms

  • Amyloidosis / complications*
  • Colchicine / therapeutic use*
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / drug therapy
  • Familial Mediterranean Fever / genetics*
  • Humans
  • Vasculitis / complications*

Substances

  • Colchicine