Familial Mediterranean fever: causes, symptoms and treatment

Familial Mediterranean fever is a genetic inflammatory disorder that causes recurrent fever and painful swelling in the abdomen, chest, and joints.
Familial Mediterranean fever is an inherited disorder that usually occurs in people of Mediterranean origin, including those of Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian descent. However, it can affect people of any ethnic group.
Familial Mediterranean fever is usually diagnosed during childhood. While there is no cure for this disorder, there are ways to alleviate or even prevent the signs and symptoms of familial Mediterranean fever if you follow your treatment plan.

Symptoms

The signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in episodes called attacks that last 1 to 3 days. Arthritic attacks can last for weeks or months.
The signs and symptoms of familial Mediterranean fever attacks vary, but may include the following:
Fever
Abdominal pain
Chest pain, which may cause difficulty in taking deep breaths
Joint pain and swelling, usually in the knees, ankles, and hips
Red rash on the legs, especially below the knees
Muscle pains
swollen and tender scrotum
The attacks usually disappear on their own after a few days. Between attacks, you’ll likely feel back to your usual state of health. Symptom-free periods can be as short as a few days or as long as several years.
In some people, the first sign of familial Mediterranean fever is amyloidosis. With amyloidosis, the amyloid A protein, which is not usually found in the body, builds up in the organs (especially the kidneys) causing inflammation and interfering with their function.

When should you see a doctor?

See your health care provider if you or your child have a sudden fever accompanied by pain in the abdomen, chest, or joints.

In the event of any discomfort, it is best to see a doctor (iStock)

Risk factor’s

Factors that may increase the risk of familial Mediterranean fever include the following:
Family history of the disorder. If you have a family history of familial Mediterranean fever, you are at increased risk for the disorder.
Mediterranean descent. If your family can trace its origin to the Mediterranean region, your risk of developing the disorder increases. Although familial Mediterranean fever can affect any ethnic group, it is more likely to occur in people of Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian descent.

Health
Each disease has one or several ways of diagnosing it in order to detect it and then combat it (EFE)

Diagnosis

Tests and procedures used to diagnose familial Mediterranean fever include the following:
Physical exam. Your health care provider may ask about your signs and symptoms and perform a physical exam to gather more information.
Review of family medical history. A family history of familial Mediterranean fever increases the chances of developing the condition, as this genetic alteration is passed from parent to child.
Laboratory analysis. During an attack, blood and urine tests may show elevated levels of some markers that indicate an inflammatory condition in the body. An elevated level of white blood cells, which fight infection, is one such marker. Protein in the urine that can indicate amyloidosis is yet another.
Genetic tests. Genetic testing can determine if the MEFV gene contains a genetic change associated with familial Mediterranean fever. These tests are not advanced enough to check for all the genetic changes associated with familial Mediterranean fever; therefore, there is a possibility of false negative results. For this reason, health care providers rarely use genetic testing as the only method to diagnose familial Mediterranean fever.
Genetic testing for familial Mediterranean fever may be recommended for first-degree relatives, such as parents, siblings, or children, or for other family members who may be at risk. Genetic counseling can help you understand genetic changes and their effects.

Treatment

Familial Mediterranean fever has no cure. However, treatment can help relieve symptoms, prevent attacks, and prevent complications caused by inflammation.
Medications used to relieve symptoms and prevent attacks of familial Mediterranean fever include the following:
Colchicine. Colchicine (Colcrys), in pill form, decreases inflammation in the body and helps prevent attacks and the development of amyloidosis. Work with your doctor to determine the best dosing strategy for you. Some people take one dose per day, while others need lower and more frequent doses. Common side effects include abdominal pain, nausea, and diarrhea. Treatment is usually lifelong.
Other medicines to prevent inflammation. For people with signs and symptoms that cannot be controlled with colchicine, drugs that block a protein called interleukin-1, which is involved in inflammatory activity, may be prescribed. Canakinumab (Ilaris) is approved by the US Food and Drug Administration for familial Mediterranean fever. Although not approved by the Food and Drug Administration specifically for familial Mediterranean fever, other options include rilonacept (Arcalyst) and anakinra (Kineret).
Colchicine is effective in most people to prevent attacks. To lessen the severity of symptoms during an attack, your health care provider may recommend intravenous fluids and medications to reduce fever and swelling and to control pain.
Regular medical appointments with your health care provider are important to manage your medications and your health.

With information from Mayo Clinic

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