Familial Mediterranean Fever (FMF) is a genetic disorder that typically affects people from the eastern Mediterranean region, especially those of Armenian, Jewish, Turkish, and Arab descent.

This disease causes recurring episodes of fever, inflammation, and severe pain in the abdomen, chest, and joints. FMF is a rare condition, affecting around 1 in 1,000 people in the ethnic groups mentioned above. It is usually diagnosed in childhood, but it can develop at any age.

Causes of Familial Mediterranean Fever

FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin is involved in regulating the inflammatory response in the body.

When pyrin is defective, it can cause excess inflammation and trigger the symptoms of FMF. The inheritance pattern of FMF is autosomal recessive, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.

If a person inherits only one copy of the mutated gene, they are said to be carriers of the disease and may not experience any symptoms.

Symptoms of Familial Mediterranean Fever

The hallmark symptom of FMF is recurring episodes of fever and inflammation. Typically, these episodes last between 12 and 72 hours and occur every few weeks or months. Other common symptoms of FMF include:.

Pain and tenderness in the abdomen
Chest pain
Pain and swelling in the joints
Rash
Muscle aches
Fatigue

Sometimes, the first episode of FMF can mimic the symptoms of other conditions, such as appendicitis, pneumonia, or rheumatoid arthritis.

However, people with FMF tend to have normal test results between episodes, and their symptoms usually go away on their own.

Diagnosis of Familial Mediterranean Fever

FMF is diagnosed based on a combination of symptoms, family history, and genetic testing. Doctors may perform blood tests to look for signs of inflammation and to rule out other conditions.

They may also perform imaging tests, such as ultrasound or MRI, to check for inflammation in the abdomen or chest. Genetic testing can confirm the presence of mutations in the MEFV gene.

Treatment of Familial Mediterranean Fever

There is no cure for FMF, but treatment can help manage the symptoms and prevent complications. The main treatment for FMF is colchicine, a medication that reduces inflammation and prevents episodes of fever and pain.

Colchicine is usually taken daily, and the dosage may need to be adjusted based on a person’s weight and symptoms. Other medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids, may be used to treat acute episodes of fever and pain.

In rare cases, biologic medications, such as anakinra or canakinumab, may be used to reduce inflammation in people who don’t respond to colchicine.

Complications of Familial Mediterranean Fever

If left untreated, FMF can lead to a number of complications, including:.

Amyloidosis: A buildup of abnormal proteins in tissues and organs, which can lead to kidney damage and other organ failure.
Infections: Recurring fever and inflammation can weaken the immune system and make people more susceptible to infections.
Infertility: Inflammation in the reproductive organs can lead to infertility in both men and women.
Arthritis: Chronic joint inflammation can lead to joint damage and disability.

With proper treatment, the risk of complications can be greatly reduced.

Prevention of Familial Mediterranean Fever

Since FMF is a genetic disorder, there is no way to prevent it from developing in people who inherit the mutated genes from their parents.

However, genetic testing and counseling can help people understand their risk of passing the disease on to their children. Carriers of the disease can have children without FMF if their partner does not carry the mutated gene. Prenatal testing can also be done to detect the presence of FMF in a fetus.

Conclusion

Familial Mediterranean Fever is a rare genetic disorder that causes recurring episodes of fever, inflammation, and pain in the abdomen, chest, and joints.

It is caused by mutations in the MEFV gene and typically affects people of eastern Mediterranean descent. FMF is usually diagnosed in childhood, but it can develop at any age. Treatment with colchicine can help manage the symptoms and prevent complications.

Genetic testing and counseling can help people understand their risk of passing the disease on to their children.