Familial Mediterranean fever (FMF)/Familial Paroxysmal Polyserisitis/Hereditary Recurrent Polyserositis:
• autosomal recessive disease characterised by a febrile illness and polyserositis of pleura, synovial membranes and the peritoneum. FMF gene on chromosome 16 has been identified (M694V & V726A).
• historically limited to Mediterranean area – now more widespread, especially in those of Mediterranean and Middle eastern origin – especially non-Ashkenazi Jews
• onset usually ages 5-15. Occurs in 1/2600 births in Jordan. Carrier rate of 1/12 Iraqi Jews
• irregular acute onset of fever that is self limited (usually 72hrs). May also get peritonitis (90% have abdominal pain), pleuritis (30%) or arthritis/synovitis (in up to 25% – usually hip, knee or ankle, acute and lasts for less than a week with no residual damage or deformity – often misdiagnosed as a juvenile arthritis). Joint pain and dysfunction are often out of proportion to the swelling – not normally red or warm.
• sometimes get ankle rash (resembles erysipelas) – can feel hot, swollen and tender to touch
• recovery of joint function is usual and damage is rare. Occasionally may get joint damage if attacks are prolonged
• arthritis is presenting symptom in up to 20%
• atypical presentation – case report of initial symptoms as subtalar joint arthritis later developed fever – treated successfully with oral colchicine
• analgesics help pain; colchicine
External Links:
Heel pain as presenting feature of Familial Mediterranean Fever (Podiatry Arena)
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