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Familial Mediterranean Fever

By

Apostolos Kontzias

, MD, Stony Brook University School of Medicine

Last full review/revision Sep 2021
CLICK HERE FOR THE PROFESSONAL VERSION

Familial Mediterranean fever is a hereditary disorder characterized by episodes of high fever with abdominal pain or, less commonly, chest pain, joint pain, or a rash.

Familial Mediterranean fever is the most common hereditary periodic fever syndrome Overview of Hereditary Periodic Fever Syndromes Hereditary periodic fever syndromes are hereditary disorders that periodically cause episodes of fever and other symptoms that are not due to usual childhood infections or any other obvious... read more Overview of Hereditary Periodic Fever Syndromes across all age groups. It occurs most commonly among people of Mediterranean origin (such as Sephardic Jews, North African Arabs, Armenians, Greeks, Italians, and Turks). However, this disorder has occurred among people of other origins (such as Ashkenazi Jews, Cubans, and Japanese). Up to 50% of people who have familial Mediterranean fever have family members, usually siblings, who have the disorder (family history).

Familial Mediterranean fever is caused by an abnormal recessive gene Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . That is, to develop the disorder, people usually must have two copies of the abnormal gene, one from each parent. However, rarely, only one copy of the abnormal gene may be enough to cause some symptoms.

The abnormal gene results in the production of a defective form of pyrin, a protein that regulates inflammation. There are a number of different possible mutations of the gene, not all of which have been identified, which may explain why some people with typical familial Mediterranean fever are not found to have a mutation in the gene. Alternatively, there may also be nongenetic and environmental factors that play a role in how this syndrome develops.

Symptoms

Symptoms of familial Mediterranean fever usually begin between the ages of 5 and 15.

The most common symptoms are

  • Abdominal pain and fever

Attacks of abdominal pain occur in about 95% of people. Attacks happen irregularly and are accompanied by fever as high as 104° F (40° C). The painful attacks usually last 24 to 72 hours but may last longer. Attacks may occur as often as twice a week or as seldom as once a year. The severity and frequency of the attacks may decrease with age, during pregnancy, and in people who develop amyloidosis Amyloidosis Amyloidosis is a rare disease in which abnormally folded proteins form amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction, organ failure, and... read more Amyloidosis . Sometimes the attacks stop completely for a number of years, only to resume afterwards.

The abdominal pain is caused by inflammation of the lining of the abdominal cavity (peritonitis Peritonitis Abdominal pain is common and often minor. Severe abdominal pain that comes on quickly, however, almost always indicates a significant problem. The pain may be the only sign of the need for surgery... read more ). The pain usually starts in one part of the abdomen then spreads throughout the entire abdomen. The severity of the pain may vary with each attack.

Less common symptoms include

Despite the severity of symptoms during attacks, people rapidly recover and remain free of illness until their next attack.

Complications of familial Mediterranean fever

If not treated adequately, some people with familial Mediterranean fever develop amyloidosis Amyloidosis Amyloidosis is a rare disease in which abnormally folded proteins form amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction, organ failure, and... read more Amyloidosis . In amyloidosis, an unusually shaped protein called amyloid is deposited in the kidneys and in many organs and tissues, impairing their function.

About one third of women with the disorder are infertile or miscarry. About 20 to 30% of pregnancies end in loss of the fetus. The disorder can cause scar tissue to form in the pelvis. The scar tissue can interfere with conception.

People with familial Mediterranean fever have an increased risk of developing other inflammatory disorders, such as ankylosing spondylitis Ankylosing Spondylitis Ankylosing spondylitis is a spondyloarthritis characterized by inflammation of the spine (spondylitis), large joints, and fingers and toes, resulting in stiffness and pain. Prolonged joint pain... read more Ankylosing Spondylitis , immunoglobulin A–associated (IgA) vasculitis Immunoglobulin A–Associated Vasculitis Immunoglobulin A–associated vasculitis (formerly called Henoch-Schönlein purpura) is inflammation of mainly small blood vessels that most often occurs in children. A rash of reddish purple bumps... read more Immunoglobulin A–Associated Vasculitis (formerly Henoch-Schönlein purpura), juvenile idiopathic arthritis Juvenile Idiopathic Arthritis (JIA) Juvenile idiopathic arthritis is a group of related childhood diseases that begin by age 16 and involve persistent or recurring inflammation of the joints. Certain forms of juvenile idiopathic... read more , polyarteritis nodosa Polyarteritis Nodosa (PAN) Polyarteritis nodosa is a form of vasculitis involving inflammation of medium-sized arteries. Any organ can be affected but usually not the lungs. Polyarteritis nodosa can be rapidly fatal or... read more , multiple sclerosis Multiple Sclerosis (MS) In multiple sclerosis, patches of myelin (the substance that covers most nerve fibers) and underlying nerve fibers in the brain, optic nerves, and spinal cord are damaged or destroyed. The cause... read more , and Behçet disease Behçet Disease Behçet disease is chronic blood vessel inflammation (vasculitis) that can cause painful mouth and genital sores, skin lesions, and eye problems. The joints, nervous system, and digestive tract... read more Behçet Disease .

Diagnosis

  • A doctor's evaluation

  • Genetic testing

A doctor usually bases the diagnosis of familial Mediterranean fever on typical symptoms. However, the abdominal pain of familial Mediterranean fever is virtually indistinguishable from that of other abdominal emergencies, particularly a ruptured appendix. Thus, some people with this disorder have urgent surgery before the correct diagnosis is made.

No routine laboratory test or imaging test is by itself diagnostic, but such tests can be useful in excluding other disorders. Blood tests can identify the abnormal gene that causes this disorder and can thus sometimes help with the diagnosis. Because some people with typical familial Mediterranean fever have only one rather than two copies of the gene or occasionally have no detectable mutations in the gene, genetic test results may be negative. In these cases, people should receive genetic counseling and care from specialists who are experienced with familial Mediterranean fever.

Prevention and Treatment

  • Colchicine

Taking colchicine daily by mouth eliminates or greatly reduces the number of painful attacks in about 85% of people. Also, it virtually eliminates the risk of kidney failure due to amyloidosis. In pregnant women, colchicine helps prevent attacks that might lead to a miscarriage. If people have infrequent attacks that begin slowly, they can wait until symptoms start before they take colchicine, but they must then take it promptly.

If colchicine is ineffective, other drugs such as canakinumab, anakinra, or rilonacept, injected under the skin, may help. These drugs modify how the immune system functions and thus help reduce inflammation.

Ibuprofen or acetaminophen can be given to relieve pain and fever.

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