see also:

• the patient with acute abdominal pain in the ED

• 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

• 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:
  • pericarditis although cardiac tamponade is rare
  • orchitis
  • aseptic meningitis
  • prolonged febrile myalgia of the abdominal muscles
  • increased risk of polyarteritis nodosa (PAN) and Henoch-Schonlein purpura (HSP)
• most have neutrophilia (high WCC) with raised erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) during acute attacks
• 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

• exclude important differentials
  • surgical emergencies (appendicitis, intussusception, perforated peptic ulcer, etc)
  • hereditary angioedema (HAE)
  • acute intermittent porphyria
  • pancreatitis
  • vasculitis
  • systemic lupus erythematosus (SLE)
  • hypertriglyceridemia
  • abdominal epilepsy and abdominal migraine
• avoid unnecessary surgery
• diagnosis is largely clinical and confirmed by therapeutic response to colchicine

• 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.