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Familial Mediterranean Fever (FMF)
Wednesday, 16 July 2003
Thursday, 14 July 2005
Familial Paroxysmal Polyserositis, Periodic Fever, Periodic Peritonitis

What

Familial Mediterranean Fever (FMF) is a genetic disorder that causes recurrent fever and inflammation of the lining of the abdomen, joints, lungs, and rarely, the heart. Treatment with a medication named colchicine is effective for most people and is necessary to prevent the development of amyloidosis, a serious complication of this disease that can lead to kidney damage.

Who

Most people develop symptoms of FMF between the ages 5 and 15 years, with 90% of those affected becoming symptomatic by age 20. Less commonly, symptoms begin in the first year of life or in later adulthood. FMF affects males and females equally, but is found more commonly in people with Armenian, Arabic, Turkish, North African, and Sephardic Jewish backgrounds.

Signs and Symptoms

The frequency, length and symptoms of FMF may vary within each individual and each attack. Signs and symptoms associated with FMF include: Most common symptoms: • Fever, that can be accompanied by chills • Abdominal pain due to inflammation of the lining of the abdomen (found in about 90% of people with FMF). Recurrent attacks of abdominal problems may lead to scarring and adhesions that could eventually cause obstruction of the intestines. Less common symptoms: • Chest pain due to inflammation of the lining of the lungs • Arthritis or other joint pain • Muscle pain • Painful red rash consisting of large bumps on the lower legs • Inflammation of the lining of the heart (pericarditis) • Amyloidosis- a serious complication of this disease that involves the build-up of protein that can deposit in vital organs, such as the kidney. Some people have up to two attacks of FMF per week, while others are only affected every few years. The episodes can last less than a day or over a week, but typically last about 1-3 days and then spontaneously resolve. The attacks do not follow a predictable pattern of occurrence and most people do not know what triggers them. Some people experience many years of remission. Between episodes, people generally feel completely well. Fortunately, as a child gets older the discomfort and frequency of attacks usually diminish.

Possible Causes

FMF is a genetic disorder and caused by changes (mutations) in a gene named MEFV. FMF is inherited in an autosomal recessive manner, which means an affected child inherited a gene with a mutation from each parent. If both parents carry a mutated gene for FMF, there is a 25% chance with each pregnancy that they will have a child with FMF. It is important to understand that parents have no control over which genes they pass to their children and most parents do not know that they carry a gene for FMF before they have an affected child.

Diagnosis

If a physician suspects FMF then blood tests may be performed. The results of these tests will help the physician to rule out other diseases and support a diagnosis of FMF, but these tests cannot definitively diagnose FMF. A Genetic test is available, but it cannot identify all cases of FMF. The diagnosis of FMF is based primarily on the history of attacks, symptoms, physical exam, and family history. Ethnicity can also be helpful in diagnosing FMF, but the disorder should not be ruled out if an individual’s background does not match the most commonly affected ethnic groups.

Treatment

The goal of treatment in FMF is to prevent and relieve attacks and to prevent the development and progression of amyloidosis. To prevent or decrease the frequency of attacks, a medication named colchicine is given to reduce inflammation. While some people are able to take colchicine only intermittently when they feel an attack coming on, most patients must take colchicine daily throughout life. Approximately 85% of those taking colchicine have a significant reduction in the severity and frequency of attacks. Additionally, colchicine usually prevents the development of amyloidosis.

Prognosis

With proper adherence to colchicine therapy, people with FMF do very well and can expect a normal lifespan. Colchicine eliminates attacks completely in some people and greatly improves the quality of life for most others. While amyloidosis can still occur, it is rare with colchicine treatment. Without colchicine, amyloidosis occurs much more frequently and usually results in the need for a kidney transplant.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Jewish Genetic Diseases
This is a good website with a brief summary of FMF and information for more resources.

MedlinePlus
This is an informative website with an easy to read summary of FMF with definitions of medical terms.

National Institute of Arthritis and Musculoskeletal and Skin Diseases
This is a great website with links to current research and events that concern FMF.

Google Search for Familial Mediterranean Fever (FMF)

References and Sources

UpToDate: Clinical Manifestations and Diagnosis of Familial Mediterranean Fever http://www.utdol.com/application/topic.asp?file=gi_dis/6883&type=A&selectedTitle=3~13 UpToDate: Management of Familial Mediterranean Fever http://www.utdol.com/application/topic.asp?file=gi_dis/2265 Schoenfeld Y, Harats D, Wick G, (2001). Atherosclerosis and Autoimmunity. Amsterdam: Elsevier Science B.V. Shannon, JB (2001). Ethnic Diseases Sourcebook. Michigan: Omnigraphics, Inc. The Merck Manual of Diagnosis and Therapy: Familial Mediterranean Fever www.merck.com/pubs/mmanual/section21/chapter289/289a.htm