Familial Mediterranean Fever (FMF)

Information

Familial Mediterranean Fever (FMF) is a genetic disease affecting people of Mediterranean or Middle Eastern descent and is also seen in populations of Jews, Turks, and Armenians.

In high-risk populations, the disease occurs in 1-3 in 1000 people.

Disease onset is usually before 20 years of age, sometimes earlier, and typical symptoms include recurrent bouts of fever, abdominal and/or chest pain, joint pains and swelling.

It is an autosomal recessive disease, which means that parents usually do not show symptoms of the disease but both carry a mutated copy of the MEFV gene. In a small proportion of cases, if one parent has FMF and the other is a carrier, there is a 50% chance that their child will have the disease.

It is not infectious.

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Signs and symptoms

The disease is characterised by recurrent fever with abdominal, one-sided chest and joint pain.

Approximately 90% of patients experience abdominal pain, joint pain occurs in 50-60% of patients, and chest pain occurs in 20-40%.

Typical symptom patterns include children complaining of a particular pain for several days before the pain resolves without treatment. Pain may be severe.

With chest pain, the child may have difficulty breathing deeply and abdominal pain can be acute and is sometimes confused with appendicitis or gastroenteritis.

Joints may be so swollen and painful that the child cannot walk and joint inflammation may take longer than other symptoms to resolve.

Reoccurrence may occur with a different, but related set of symptoms. Patients normally recover fully and are healthy between bouts.

Some children experience mild symptoms that mimic normal childhood illnesses, making the disease hard to recognise and diagnose.

Joint inflammation often affects one joint at a time, called monoarthritis, and commonly affects an ankle or a knee accompanied by a red skin rash over the joint.

In some children, their only symptom is recurrent joint pain and swelling, and this can be misdiagnosed as acute rheumatic fever or juvenile idiopathic arthritis.

In a small percentage of cases 5-10%, inflammation of the joint becomes chronic and causes damage.

Read Arthritis Australia’s FMF information sheet

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Treatment options

Because of the intermittent and changing nature of symptoms, diagnosis involves examination and blood tests during an attack, or episode of illness, and a repeat of the blood tests when symptoms disappear.

Generally, these tests are positive during an attack and return to normal post attack. International classification criteria are used to help recognise FMF.

Currently, there is no cure for FMF. However, once a diagnosis is made, a medication called colchicine is prescribed for approximately six months after which the symptoms are re-evaluated.

Using the medication, symptoms often stop completely or decrease in number, severity and duration.

Some patients may be prescribed life-long colchicine and depending on which organs or systems are effected by the condition, may need to see rheumatologists, nephrologists (kidney specialists) and gastroenterologists on an ongoing basis.

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