Molecular screening for familial Mediterranean fever is used to confirm the disease in patients with appropriate clinical symptomatology.
Familial Mediterranean Fever (FMF) is a hereditary inflammatory disease, which is 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, with pericarditis and meningitis. Episodes usually appear 1 to 2 times a month and last for 1 to 3 days. Typical onset of symptoms start at 10 years of age. Amyloidosis is a serious complication of the familial Mediterranean fever that can lead to kidney failure.
The familial Mediterranean fever is caused by mutations in the MEFV gene encoding a protein, pyrin. Pyrin is mainly found in neutrophils and its main 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, inability to inhibit pyrene activity results in uncontrolled production of interleukin-1 (IL-1), 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 belongs 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 the majority of patients with familial Mediterranean fever.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. Correct interpretation of 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 interpreted in relation to each individual case and family history, clinical findings and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
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