Genetic testing for familial Mediterranean fever is used to confirm the disease in patients with appropriate clinical symptomatology.
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Familial Mediterranean Fever (FMF) is a hereditary inflammatory disease widespread in Mediterranean populations, with an incidence of approximately 1 in 400 to 1 in 1000. Familial Mediterranean fever has been reported in other populations but at lower incidences.
Familial Mediterranean fever is characterized by recurrent febrile episodes with abdominal pain, pleuritis, arthritis, and, rarely, pericarditis and meningitis. Episodes usually appear 1 to 2 times a month and last for 1 to 3 days. The typical onset of symptoms starts at 10 years of age. Amyloidosis is a serious complication of familial Mediterranean fever that can lead to kidney failure.
Familial Mediterranean fever is caused by mutations in the MEFV gene encoding a protein, pyrin. Pyrin is mainly found in neutrophils, and its primary function is related to innate immune response. Familial Mediterranean fever is typically inherited in an autosomal recessive manner, but heterozygous carriers of the mutation can also exhibit symptoms. In patients with familial Mediterranean fever, the inability to inhibit pyrene activity results in uncontrolled interleukin-1 (IL-1) production, leading to episodes of inflammation (with fever) in the peritoneum, pleura, and joints. Presumably, these inflammatory episodes lead to increased production of amyloid A proteins (which belong to the acute phase proteins), with subsequent deposition on the kidneys. However, only patients with specific MEFV haplotypes develop amyloidosis.
Prophylactic treatment with colchicine has been shown to reduce the frequency and severity of episodes of inflammation and inhibit the development of amyloidosis in most patients with familial Mediterranean fever.
Important Note
Laboratory test results are the most critical parameter for diagnosing and monitoring all pathological conditions. Between 70 to 80% of diagnostic decisions are based on laboratory tests. Correctly interpreting laboratory results allows a doctor to distinguish "healthy" from "diseased."
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be analyzed based on each case and family history, clinical findings, and the results of other laboratory tests and information. Your physician should explain the importance of your test results.
At Diagnostiki Athinon, we answer any questions you may have about the test you perform in our laboratory and contact your doctor to ensure you receive the best possible medical care.
