Familial Mediterranean Fever: An Look at Symptoms, Genetics, and Management

Familial Mediterranean Fever (FMF) is a complex genetic disorder characterized predominantly by recurrent episodes of inflammation and fever, primarily affecting individuals of Mediterranean descent, including Sephardic Jews, Turks, Armenians, and Arabs. This post delves into the symptoms, genetic underpinnings, and treatment approaches for FMF.

Symptoms and Clinical Manifestations
FMF manifests through episodic severe pain and fever, typically lasting a few days before subsiding, only to recur after a period. The primary areas affected are the joints, peritoneal and pleural spaces, showing acute inflammation and a substantial influx of neutrophils (Louvrier et al., 1959). These episodes can be so severe that they mimic acute abdominal emergencies like appendicitis, which can lead to unnecessary surgeries (Zadeh, Getzug, & Grody, 2011).

Complications of untreated FMF include renal amyloidosis, which can progress to end-stage renal disease, infertility, and growth retardation in children due to chronic inflammation (Shohat & Halpern, 2011).

Genetic Basis and Diagnosis
FMF is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene, which encodes the protein pyrin. Pyrin plays a crucial role in the regulation of the body’s inflammatory responses. The presence of specific mutations like M680I, M694V, and V726A significantly increases the risk of developing FMF symptoms (Eisenberg et al., 1998).

Diagnosis is primarily clinical and supported by genetic testing, particularly in ambiguous cases or where typical symptoms are absent. Molecular diagnostic techniques such as PCR amplification are used to detect mutations efficiently (Eisenberg et al., 1998).

Conclusion
Familial Mediterranean Fever is a significant genetic disease that, while challenging, can be managed effectively with proper diagnosis and treatment. Understanding the genetic foundations and clinical manifestations of FMF not only aids in better patient outcomes but also enhances our knowledge of inflammatory diseases at large.

8 Reference:
Louvrier, C., Grateau, G., & Georgin-Lavialle, S. (1959). FAMILIAL MEDITERRANEAN FEVER. Medical Journal of Australia, 1.
Zadeh, N., Getzug, T., & Grody, W. (2011). Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic. Genetics in Medicine, 13, 263-269.
Shohat, M., & Halpern, G. J. (2011). Familial Mediterranean fever—a review. Genetics in Medicine, 13(6), 487-498.
Eisenberg, S., Aksentijevich, I., Deng, Z., Kastner, D., & Matzner, Y. (1998). Diagnosis of Familial Mediterranean Fever by a Molecular Genetics Method. Annals of Internal Medicine, 129, 539-542.
Alghamdi, M. (2017). Familial Mediterranean fever, review of the literature. Clinical Rheumatology, 36, 1707-1713.