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[Amyloidosis and familial Mediterranean fever]
Abstract:
Familial Mediterranean Fever (F. M. F.) is an autosomal recessive disorder occurring most commonly in Sepharadi Jews and Armenians. Two phenotypic features characterize the disease: brief episodic febrile attacks of peritonitis, pleuritis or synovitis recurring from childhood or adolescence and the development of systemic amyloidosis. Attacks are accompanied by striking elevations of acute phase proteins, including serum amyloid A protein. The amyloidosis of Familial Mediterranean Fever is of the AA type, and manifest clinically as a nephropathy that passes through proteinuria, nephrotic and uremic stages to renal death. Although there is ethnic variation in the incidence of amyloidosis of F. M. F. in our patient population--predominantly Sepharadi Jews of North African extraction--an amyloidotic death at an early age is their genetic destiny. Since the introduction in 1972 of colchicine to prevent the febrile attacks, the drug has been proven and become the main stay of therapy. Today, colchicine has been shown to be effective in preventing amyloidosis as well as the febrile attacks in Familial Mediterranean Fever. End stage renal disease is not the end of the road for patients with F.M.F. because of improving outlook for dialysis and renal transplantation in these patients.
Insights
Familial Mediterranean Fever (F.M.F.) is an inherited disorder causing febrile attacks and amyloidosis. Colchicine therapy effectively prevents these attacks and amyloidosis, improving patient outcomes.
Area of Science:
- Genetics and immunology
- Rare disease research
- Clinical medicine
Context:
- Familial Mediterranean Fever (F.M.F.) is an autosomal recessive genetic disorder.
- Characterized by recurrent febrile attacks and systemic amyloidosis.
- Primarily affects Sephardi Jews and Armenians.
Purpose:
- To summarize the clinical features, pathogenesis, and treatment of F.M.F.
- To highlight the efficacy of colchicine in managing F.M.F.
- To discuss the long-term prognosis for patients with F.M.F.
Summary:
- F.M.F. presents with episodic peritonitis, pleuritis, or synovitis, accompanied by elevated acute-phase proteins like serum amyloid A.
- AA-type amyloidosis is a common complication, leading to nephropathy and renal failure.
- Colchicine, introduced in 1972, is the mainstay treatment, effectively preventing both febrile attacks and amyloidosis.
Impact:
- Colchicine therapy has significantly improved the prognosis for F.M.F. patients.
- Early diagnosis and treatment can prevent severe complications like end-stage renal disease.
- Advances in dialysis and transplantation offer further hope for patients with renal involvement.