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Published on: February 8, 2019
Diagnostic and treatment concerns in familial Mediterranean fever
1The Heller Institute of Medical Research and Department of Medicine F and Rheumatology Unit, Sheba Medical Center, Tel-Hashomer, Israel.
Abstract:
Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, affecting people of Jewish, Arabic, Turkish and Armenian ancestry. The disease is the prototype of the periodic febrile syndromes. Its hallmark is short attacks of fever and painful manifestations in the abdomen, joints, chest, scrotum and skin. Chronic and protracted manifestations, particularly nephropathic amyloidosis, chronic arthritis, and protracted myalgia, may also occur in the disease. The diagnosis of FMF should be considered in individuals of an appropriate ethnic background who present with febrile disease of episodic nature. The differential diagnosis in this case is broad and includes a large number of infectious, inflammatory and genetic diseases. However, in most cases, the very specific general and site-restricted features of the FMF attacks on the one hand, and the absence of manifestations typical of other conditions on the other hand, determine the diagnosis of FMF. This chapter presents clues and tips that help in the diagnosis and treatment of FMF.
Insights
Familial Mediterranean fever (FMF) is a genetic disorder causing recurrent fevers and pain. Early diagnosis and treatment are key to managing FMF and preventing complications like amyloidosis.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is a rare genetic autoinflammatory disorder.
- It is characterized by recurrent episodes of fever and serositis, primarily affecting individuals of Mediterranean and Middle Eastern descent.
- FMF serves as a prototype for periodic fever syndromes, highlighting the importance of understanding autoinflammatory conditions.
Purpose of the Study:
- To provide a comprehensive overview of Familial Mediterranean fever (FMF).
- To highlight key diagnostic features and differential diagnoses for FMF.
- To offer guidance on the management and treatment strategies for FMF patients.
Main Methods:
- Review of existing literature on FMF.
- Analysis of clinical presentation and diagnostic criteria.
- Discussion of treatment options and long-term management.
Main Results:
- FMF presents with characteristic febrile attacks affecting the abdomen, joints, chest, and skin.
- Chronic manifestations such as amyloidosis and arthritis can occur.
- Diagnostic suspicion should be raised in individuals with appropriate ethnic background and episodic febrile illness.
Conclusions:
- Accurate diagnosis of FMF relies on specific clinical features and exclusion of other conditions.
- Timely diagnosis and appropriate treatment are crucial to prevent severe complications like nephropathic amyloidosis.
- This chapter aims to equip clinicians with essential knowledge for effective FMF management.
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