What is familial Mediterranean fever (FMF)?
Familial Mediterranean fever (FMF) is an inherited autoinflammatory condition involving impaired regulation of inflammation. It can cause recurrent fever and abdominal, chest or joint pain. Symptoms usually begin in childhood or adolescence, although later onset is possible. It is more common in populations of Mediterranean ancestry but can affect people of other backgrounds. MedlinePlus Genetics
FMF symptoms and attacks
- Recurrent fever accompanied by abdominal or chest pain.
- Pain, swelling and restricted movement, particularly in the knees and ankles.
- A red rash on the legs; muscle pain in some patients.
- Attacks generally lasting 12–72 hours, with fewer symptoms between episodes. Joint symptoms may last longer.
The frequency and severity of attacks vary between individuals. These symptoms alone do not establish an FMF diagnosis. American College of Rheumatology
How is FMF diagnosed?
Diagnosis combines the history of attacks, examination, family history and laboratory findings. Inflammatory markers such as CRP and ESR may rise during an attack; they are not specific to FMF. Other causes of similar symptoms are also investigated. Recording the dates, duration and associated symptoms of attacks can help during a medical consultation.
The MEFV gene and the role of genetic testing
MEFV is the gene associated with pyrin, a protein involved in regulating inflammation. Genetic testing supports clinical assessment. Only one variant may be detected in some patients; findings must be interpreted alongside symptoms and family history. MedlinePlus Genetics
| Test | Scope |
|---|---|
| Targeted region / mutation analysis | Looks for predefined variants; it does not identify changes outside the test’s scope. |
| MEFV sequencing | Investigates sequence changes in the gene regions examined. Consult the test report for coverage and limitations. |
A negative result alone does not rule out FMF. Medical genetics assessment helps determine the appropriate test and interpret its findings. GeneReviews — FMF. See the relevant ECEGEN investigations in our test catalogue.
Inheritance and family planning
FMF usually follows autosomal recessive inheritance. In the classic situation where both parents carry a disease-associated variant, each pregnancy has a 25% chance of the child inheriting both variants, a 50% chance of inheriting one and a 25% chance of inheriting neither. These probabilities apply independently to every pregnancy. Genetic counselling assesses the family’s actual risk in light of the variants and clinical findings.
Treatment, amyloidosis and regular follow-up
Colchicine is the main treatment option. Regular use as prescribed helps control attacks and prevent complications; it is not used simply as a painkiller when an attack starts. Dosing and follow-up are individualised. When the response is inadequate, a specialist may consider treatments targeting IL-1. American College of Rheumatology
Uncontrolled inflammation can cause AA amyloidosis, a buildup of protein that can particularly affect the kidneys. This is why regular treatment and follow-up matter. MedlinePlus Genetics
Frequently asked questions
No. FMF is not an infection and does not spread from person to person.
Yes. The absence of a known affected family member does not rule out FMF.
Results are interpreted alongside clinical assessment. The test’s scope and the significance of the detected variant matter.
Do not stop or change treatment without consulting your doctor. Fewer attacks may reflect the effect of regular treatment.
Genetic assessment at ECEGEN
For information about MEFV testing and family assessment, visit our FMF genetic testing service, book an appointment or contact us. Bringing previous test results and any relatives’ genetic reports can help during the consultation.