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
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:
pericarditis although cardiac tamponade is rare
orchitis
aseptic meningitis
prolonged febrile myalgia of the abdominal muscles
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
~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.