AA amyloidosis with multiorgan involvement secondary to familial Mediterranean fever (FMF): dreadful consequences of delayed diagnosis and management

BMJ Case Rep. 2025 Jun 30;18(6):e266424. doi: 10.1136/bcr-2025-266424.

Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disorder that can lead to progressive AA amyloidosis if not diagnosed and treated promptly. We present a case of a middle-aged male with extensive multiorgan involvement due to AA amyloidosis secondary to FMF. His medical journey spans over a decade, with disease progression affecting the kidneys, bone marrow, liver, heart, lungs and gastrointestinal tract. Genetic testing confirmed M694V and V726A mutations in the Mediterranean Fever gene (MEFV). This is the first reported case of FMF-associated AA amyloidosis with extensive multiorgan involvement, proven by biopsy, in a single individual. It highlights the diagnostic and therapeutic delays contributing to disease progression, posing significant management challenges, and emphasises the importance of high clinical suspicion, timely workup and early intervention.

Keywords: Chronic renal failure; Heart failure.

Publication types

  • Case Reports

MeSH terms

  • Amyloidosis* / diagnosis
  • Amyloidosis* / etiology
  • Amyloidosis* / pathology
  • Amyloidosis* / therapy
  • Colchicine / therapeutic use
  • Delayed Diagnosis
  • Familial Mediterranean Fever* / complications
  • Familial Mediterranean Fever* / diagnosis
  • Familial Mediterranean Fever* / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pyrin / genetics
  • Serum Amyloid A Protein

Substances

  • Pyrin
  • Colchicine
  • MEFV protein, human
  • Serum Amyloid A Protein

Supplementary concepts

  • AA amyloidosis