Familial Mediterranean Fever (Juvenile): Symptoms, Treatment

Overview

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease. It can cause recurrent fever and painful inflammation in the abdomen, chest, lung or joints. Sometimes, symptoms like rash and headache would occur.

FMF generally occurs in people from Mediterranean and Middle East, such as Sephardic Jews, Turks, Arabs, North Africans and Armenians. The disease affects 1 in 200-1,000 people in these populations. Though it is less common in other places, it can affect any ethnic group.

90% of patients would experience first symptoms of the flare before 20 years old. Fever would occur before the age of 10 in about 75% of patients.

 

Causes

FMF is a genetic disorder. It is caused by the mutation of Mediterranean fever (MEFV) gene. The change of this gene would lead to the production of a protein called pyrin in white blood cells. This kind of protein would interrupt the body’s control over the immune system, resulting in inflammation. So far, studies have found nearly 300 different changes to MEFV that can be the causes of FMF.

People with a family history of FMF should consider the possibility of getting affected. Besides, if you are born in the Mediterranean and Middle East, or your family can be traced to the Mediterranean region, your risk of the disease is increased.

Other factors causing FMF involve

  • stress
  • coldness
  • infections
  • use of some medications
  • menstrual cycle

 

Symptoms

Signs and symptoms of FMF usually start during childhood. The symptoms and severity vary among individuals. Patients from the same family may show different symptoms. They mainly include:

  • Recurrent periods of fever
  • Abdominal and/or chest pain
  • Painful and swollen joints
  • Skin rash, especially below the knees and on the feet
  • Headache
  • Enlarged spleen
  • Swelling of the ends of fingers and/or toes

Between these attacks, you may feel normal. Periods without any symptoms may last from a few days to several years. In this symptom-free episode, you may look and feel healthy, so proper diagnosis is rather important.

Complications

If left untreated, FMF may cause amyloidosis in about 60%-80% of patients. During attacks of FMF, your body may produce an abnormal protein called amyloid A. Amyloidosis occurs when these proteins accumulate and then cause damage to your organs, particularly kidney.

For women, the inflammation during the FMF may affect the female reproductive organs, resulting in infertility.

 

Diagnosis

The diagnosis of FMF is mainly based on suspected symptoms, like repeated fever in company with pain in abdomen, chest or joints. Doctors will also ask about your family medical history of FMF or kidney failure with unknown reasons.

Other specific tests include:

  • Blood tests. Blood tests may reveal abnormal levels of certain markers indicating an inflammation in your body. For example, white blood cells, which are helpful in fighting against infections, would increase in your body when you have FMF.
  • Genetic testing. Genetic testing can measure if your MEFV gene is mutated or not. However, some patients with FMF would prove negative for this kind of mutation. This shows that genetic testing is not advanced enough.

 

Treatment

There is no exact cure for FMF, but treatment can help relieve or prevent signs or symptoms. Medications usually used to control FMF are:

Colchicine can reduce inflammation in your body and protect you from future attacks. Patients with different symptoms and severity of FMF should take different doses of colchicine, so talk with your doctor about it. Side effects of colchicine include bloating, abdominal cramps and diarrhea.

  • Other medications.

If colchicine does not work for you or you cannot tolerate colchicine, doctors may prescribe some other medications to prevent inflammation, such as canakinumab (Ilaris), rilonacept (Arcalyst) and anakinra (Kineret).

Most people with FMF can lead normal lives with early diagnosis and treatment with colchicine. If you are newly diagnosed patients or you plan to have children, genetic counseling is recommended.

 

Keywords: familial Mediterranean Fever; FMF.

 

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.