Familial Mediterranean fever (FMF) is a genetic condition most common among persons of Turkish, Armenian, Jewish and Mediterranean descent. It is characterized by pain and inflammation, abdominal pain, fever and joint pain. These symptoms occur in bouts which last for hours to days, recurring at intervals of weeks to months.
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How is FMF diagnosed?
The diagnosis of FMF is made on the basis of the Tel-Hashomer clinical criteria. This depends upon the results of physical examination, the family history, certain specific blood tests designed to detect inflammatory markers like white blood cell counts, and genetic testing to detect certain mutations in the MEFV gene.
The following are the Tel-Hashomer criteria:
Major criteria
- Recurrent episodes of fever accompanied by serosal inflammation (of the peritoneum, synovium or pleura)
- Primary AA type amyloidosis
- Good response to treatment with colchicine
Minor criteria
- Recurrent episodes of fever
- Erythema resembling that seen in erysipelas
- Family history of FMF in a first-degree relative
According to these criteria, one major and one minor, OR two or more major symptoms must be present.
Another simpler form of the FMF criteria (Livneh et al) is as follows:
Major criteria
For typical attacks
- Generalized peritonitis
- Pleuritis on one side, or pericarditis
- Monoarthrtis of hip, knee or ankle
- Isolated fever (usually short in duration)
- Incomplete abdominal attack
Minor criteria
For incomplete attacks
- Involvement of the chest and/or the joint
- Leg pain on exertion
- Good response to colchicine
Here, a single major or two minor criteria must be present for the diagnosis.
What is the difference between a typical and an incomplete attack of FMF?
In a typical FMF attack, there are three or more bouts of fever (recurrent fever) ≥ 38oC, lasting 12 hours to 3 days.
In an incomplete attack, there is
- recurrent fever that is low-grade (elevated temperature but less than 38oC), or has a different duration from the typical attack, or fulfils both criteria. However, it should last not less than 6 hours and not more than 7 days
- no sign of peritonitis
- abdominal pain localized to one spot
- arthritis of a joint which is not typical
Genetic testing for FMF
Genetic testing is available for two heterozygous mutations or one homozygous mutation in the MEFV gene.
How is FMF managed?
The management of FMF is directed at The treatment of acute attacks, preventing recurrences, and suppression of chronic inflammation to prevent complications from emerging.
Pharmacotherapy
The drug most typically used for prevention of chronic disease and suppression of recurrences is colchicine, a mitosis inhibitor, but other cytokine inhibitors and anti-inflammatory drugs may also be effective.
During acute episodes, non-steroidal anti-inflammatory drugs (NSAIDs) and other pain relieving medications are used to alleviate fever, pain, inflammation, and joint and muscle pain.
Genetic counseling is recommended for individuals and families following the diagnosis.
Self-care and coping
Educating yourself about the disease helps make better treatment decisions, in consultation with your healthcare provider.
Also, finding someone who will support you as you express your inner feelings about the disease is an important coping strategy, whether it be a friend or family member, a professional therapist, or a support group nearby.
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Further Reading