Familial mediterranean fever overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Familial mediterranean fever is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). It is prominently present in the Armenian people (up to 1 in 7 affected), Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), people from Turkey, the Arab countries and Lebanon.[1]
Historical Perspective
A New York allergist, Dr Sheppard Siegal, first described the attacks of peritonitis in 1945; he termed this "benign paroxysmal peritonitis", as the disease course was essentially benign.[2] Dr Hobart Reimann, working in the American University in Beirut, described a more complete picture which he termed "periodic disease".[3]
Causes
Familial mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation.
Diagnosis
History and Symptoms
The diagnosis is clinically made on the basis of the history of typical attacks, especially in patients from the ethnic groups in which FMF is more highly prevalent.
Laboratory Findings
An acute phase response is present during attacks, with high C-reactive protein levels, an elevated white blood cell count and other markers of inflammation. In patients with a long history of attacks, monitoring the renal function is of importance in predicting chronic renal failure.[1]
A genetic test is also available now that the disease has been linked to mutations in the MEFV gene. Sequencing of exons 2, 3, 5, and 10 of this gene detects an estimated 97% of all known mutations.[1]
Treatment
Medical Therapy
Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac).[1]
Since the 1970s, colchicine, a drug otherwise mainly used in gout, has been shown to decrease attack frequency in FMF patients. The exact way in which colchicine suppresses attacks is unclear. While this agent is not without side-effects (such as abdominal pain and muscle pains), it may markedly improve quality of life in patients. The dosage is typically 1-2 mg a day. Development of amyloidosis is delayed with colchicine treatment. Interferon is being studied as a therapeutic modality.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Livneh A, Langevitz P. Diagnostic and treatment concerns in familial Mediterranean fever. Baillieres Best Pract Res Clin Rheumatol 2000;14(3):477-98. PMID 10985982.
- ↑ Siegal S. Benign paroxysmal peritonitis. Ann Intern Med 1945;23:1-21.
- ↑ Reiman HA. Periodic disease. Probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. JAMA 1948;136:239-44.