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The UCLA digestive diseases team cares for routine and complex gastrointestinal problems. To learn more about our services, call 310-825-2631.
The Familial Mediterranean Fever (FMF) Program is a diagnostic and treatment clinic and is the only program of its kind in the United States.
What is Familial Mediterranean Fever?
FMF is a genetic periodic fever syndrome that is often misdiagnosed; however, 90% of patients are diagnosed before age 20. When not properly treated, it can lead to irreversible organ damage, particularly to the kidneys, from amyloidosis (conditions in which amyloid proteins are abnormally deposited in organs and/or tissues). While FMF is sometimes seen in other ethnic groups, it is most common among people of Middle Eastern descent, especially those of Armenian heritage. Sephardic and Ashkenazi Jews, Turks, and some Arabs are also high-frequency carriers of the mutations that lead to this disorder. FMF is a recessive genetic disease, meaning that when both parents are carriers, there is a one-in-four chance of producing a child who suffers from it. An exciting development in FMF research has been the cloning of the genetic defect responsible - the MEFV gene that has been mapped to chromosome 16. Since identification of this gene, more than 30 genetic mutations have been identified, which can now be detected through blood testing.
FMF is characterized by sporadic attacks of inflammation affecting the lining surfaces of body cavities. Symptoms include recurrent attacks of fever and severe abdominal, chest, or joint pain usually lasting no more than three days. These attacks can occur at varying intervals, but in between attacks, patients are usually asymptomatic. The pathogenesis of FMF is as yet unclear but relates to a self-limited dysregulation of the inflammatory response in the body (inflammation running unchecked). Often, symptoms are confused with surgical emergencies. Colchicine, a drug used to treat gout (a form of arthritis), is the first-line treatment. It prevents these disabling attacks in more than 90% of patients and prevents amyloidosis.
We are currently collaborating to build a FMF registry and biobank database to correlate clinical outcomes and patient characteristics to biological data. Learn more
Dr. Terri Getzug is medical director of UCLA's FMF Program, which is an important national and international referral center for definitive diagnoses and treatments. Founded in the early 1960s by Dr. Arthur Schwabe (former chief of gastroenterology) and Dr. Sherman Mellinkoff (dean emeritus of the medical school), this specialty clinic is one of the largest of its kind in the Western Hemisphere, with more than 700 registered patients. It offers comprehensive interdisciplinary expertise with specialists ranging from medical geneticists and rheumatologists to nephrologists and immunologists (Wayne Grody, MD, PhD). Besides diagnosis and treatment of FMF, another primary goal of the clinic is the education of medical students, residents, and fellows; patients and their families; and the medical and lay communities at large.