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fmfever

familial Mediterranean fever (FMF)

introduction

  • autosomal recessive hereditary condition characterised by episodes of fever and serosal inflammation causing abdominal pain or pleuritic chest pain or, particularly in North Africans, synovitis and joint pain
  • mainly occurs in those descended from Sephardic Jews, Ashkenazi Jews, Armenians, Turks, North Africans, Arabs, and, less commonly, Greeks and Italians.
  • the major cause of mortality is the insidious development of secondary (AA) amyloidosis with eventual renal failure

clinical features

  • 65% have 1st attack before age 10 years
  • 90% have 1st attack before age 20 years
  • attacks are generally self-resolving abrupt onset episodes of fever and abdominal pain, pleurisy or joint pain lasting 1- 3 days although may last up to 1 week
  • the abdominal pain may suggest a surgical abdomen
  • recurrent bouts of abdominal pain may lead to adhesions and risk of small bowel obstruction or infertility
  • pleurisy attacks may be associated with a small pleural effusion
  • attacks of synovitis may result in residual arthritis lasting weeks or months, 7% of cases involve the sacro-iliac joints in association with M694V mutation on the pyrin gene
  • 7-40% develop a erysipelas-like tender 10-15 sq.cm self-limiting skin lesion on one lower leg, ankle or foot
  • some develop:
  • secondary (AA) amyloidosis may occur in 30% of Sephardic Jews and 60% of Turks who have not been treated with colchicine which markedly reduces this potentially mortal complication

Mx of acute attacks

prevention of attacks and of amyloidosis

  • colchicine 0.5mg bd or tds long term
    • ~72% respond with attacks reduced to less than one attack per 6 months
    • 15% partly respond with attacks reduced to one attack per 3 months
    • 13% were non-responders - perhaps due to non-compliance, substance abuse, misdiagnosis or a more severe form of the disease
    • if an attack develops, patients should be advised to take an extra tablet at the start of the prodrome to hopefully abort the attack
    • those who become free of attacks can trial reduction of dose to 0.5mg once daily
    • cochicine appears to be safe for the fetus during pregnancy, and general advice is that it should be continued during pregnancy and in lactation
    • long term use of loperamide or other antidiarrheals are used in patients who have diarrhea due to colchicine
  • those with infrequent episodes with no evidence of chronic inflammation, may be better suited to using colchicine only at the start of the prodrome to an attack
    • colchicine regimen was 0.6 mg every hour for four hours, then every two hours for four hours, then every 12 hours for two days
    • this regime aborted an acute attack in 75%
    • this may not prevent amyloidosis therefore those with chronic inflammation between attacks as judged by raised ESR, CRP or proteinuria, should be offered long term colchicine.
fmfever.txt · Last modified: 2013/08/14 08:27 by 127.0.0.1

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