Protracted Febrile Myalgia (PFM)

Overview

Epidemiology 123 cases Male = Female Syndrome association: Familial Mediterranean Fever (FMF) Gene disorder: MEFV (Pyrin), M694V mutation (93%) Homozygous or Compound heterozygous (86%) Heterozygous (7%) FMF Inheritance: Recessive > Dominant Pyrin protein Inflammasome regulation Mutations Inflammasome activation Increased production of pro-inflammatory cytokines (e.g. interleukin-1) FMF complications Amyloid Pain Myalgias, spontaneous (2.5% to 59%) Exertional discomfort PFM PFM General Classification: Hereditary Autoinflammatory disorders Frequency in FMF: 2% (0.1% to 11%) Clinical Onset Age E

OMIM Entries

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