title: [Familial Mediterranean fever: not to be missed].
abstract: Familial Mediterranean fever (FMF) is common among Turkish and Moroccan migrants. We describe three patients with FMF. A 3-year-old girl with recurrent fever and abdominal pain who was diagnosed early with FMF and treated effectively with colchicine. An adolescent girl who required interleukin (IL)-1 blockade to achieve disease remission. And a 37-year-old woman in whom the attacks of FMF had not been recognised, but who developed end-stage kidney failure due to AA amyloidosis. Mutations in the MEFV gene underlie the disease in most but not all patients. Therefore, FMF remains a clinical diagnosis. FMF patients suffer recurrent bouts of inflammation, often with fever, serositis or arthritis. The major complication is AA amyloidosis. The inflammatory process is mediated by IL-1β. When started early, colchicine prophylaxis can prevent amyloidosis. When colchicine fails, IL-1 blockade has shown promising results. Timely diagnosis and treatment can make the difference between near normal health and end-stage kidney failure.
authors: Universitair Medisch Centrum Utrecht, afd. Algemene Pediatrie, Utrecht, the Netherlands. j.frenkel@umcutrecht.nl
authors: Joost
authors: J
authors: Frenkel
authors: Frederike J
authors: FJ
authors: Bemelman
authors: Bert-Jan
authors: BJ
authors: Potter van Loon
authors: Anna
authors: A
authors: Simon
mesh_terms: D000293:Adolescent; D000328:Adult; D000686:Amyloidosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007249:Inflammation / Q000188:drug therapy / Q000209:etiology; D007375:Interleukin-1 / Q000037:antagonists & inhibitors; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D009426:Netherlands; D050257:Tubulin Modulators / Q000627:therapeutic use*; D014421:Turkey / Q000208:ethnology
chemical_list: D007375:Interleukin-1; D050257:Tubulin Modulators; D003078:Colchicine