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Familial Mediterranean Fever

By

Gil Amarilyo

, MD, Tel Aviv University

Reviewed/Revised Dec 2023
VIEW PROFESSIONAL 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 people who have Sephardic Jewish, North African Arab, Armenian, Greek, Italian, or Turkish ancestry). However, this disorder has occurred among people of other origins (such as people who have Ashkenazi Jewish, Cuban, or Japanese ancestry).

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 or code for functional RNA molecules.... 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 of Familial Mediterranean Fever

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

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 12 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 during pregnancy and in people who develop amyloidosis Amyloidosis Amyloidosis is a rare disease in which abnormally folded proteins form into collections called amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction... 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.

Physical and emotional stress (for example, physical injury, infection, and menstruation) may trigger some attacks.

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 into collections called amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction... 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.

Up to one third of untreated women with familial Mediterranean fever have infertility or miscarry a pregnancy. The disorder can cause scar tissue to form in the pelvis. The scar tissue can interfere with conception.

Diagnosis of Familial Mediterranean Fever

  • 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.

Treatment of Familial Mediterranean Fever

  • Colchicine

Taking colchicine daily by mouth eliminates or greatly reduces the number of painful attacks in about 95% of people. Also, colchicine greatly reduces the risk of kidney failure due to amyloidosis. In pregnant women, colchicine helps prevent attacks that might lead to a miscarriage.

If colchicine stops working or people are not able to tolerate it, other medications such as canakinumab, anakinra, or rilonacept, injected under the skin, may help. These medications modify how the immune system functions and thus help reduce inflammation.

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

Drugs Mentioned In This Article

Generic Name Select Brand Names
ColciGel, Colcrys , GLOPERBA, LODOCO, MITIGARE
Ilaris
Kineret
Arcalyst
Advil, Advil Children's, Advil Children's Fever, Advil Infants', Advil Junior Strength, Advil Migraine, Caldolor, Children's Ibuprofen, ElixSure IB, Genpril , Ibren , IBU, Ibupak, Midol, Midol Cramps and Body Aches, Motrin, Motrin Children's, Motrin IB, Motrin Infants', Motrin Junior Strength, Motrin Migraine Pain, PediaCare Children's Pain Reliever/Fever Reducer IB, PediaCare Infants' Pain Reliever/Fever Reducer IB, Samson-8, Toxicology Saliva Collection
7T Gummy ES, Acephen, Aceta, Actamin, Adult Pain Relief, Anacin Aspirin Free, Aphen, Apra, Children's Acetaminophen, Children's Pain & Fever , Children's Pain Relief, Comtrex Sore Throat Relief, ED-APAP, ElixSure Fever/Pain, Feverall, Genapap, Genebs, Goody's Back & Body Pain, Infantaire, Infants' Acetaminophen, LIQUID PAIN RELIEF, Little Fevers, Little Remedies Infant Fever + Pain Reliever, Mapap, Mapap Arthritis Pain, Mapap Infants, Mapap Junior, M-PAP, Nortemp, Ofirmev, Pain & Fever , Pain and Fever , PAIN RELIEF , PAIN RELIEF Extra Strength, Panadol, PediaCare Children's Fever Reducer/Pain Reliever, PediaCare Children's Smooth Metls Fever Reducer/Pain Reliever, PediaCare Infant's Fever Reducer/Pain Reliever, Pediaphen, PHARBETOL, Plus PHARMA, Q-Pap, Q-Pap Extra Strength, Silapap, Triaminic Fever Reducer and Pain Reliever, Triaminic Infant Fever Reducer and Pain Reliever, Tylenol, Tylenol 8 Hour, Tylenol 8 Hour Arthritis Pain, Tylenol 8 Hour Muscle Aches & Pain, Tylenol Arthritis Pain, Tylenol Children's, Tylenol Children's Pain+Fever, Tylenol CrushableTablet, Tylenol Extra Strength, Tylenol Infants', Tylenol Infants Pain + Fever, Tylenol Junior Strength, Tylenol Pain + Fever, Tylenol Regular Strength, Tylenol Sore Throat, XS No Aspirin, XS Pain Reliever
NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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