Familial Mediterranean fever

Description

Familial Mediterranean fever (FMF) is a genetic inflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints.

Familial Mediterranean fever (FMF) is a hereditary disorder that usually occurs in people of Mediterranean origin — including the Jews, Arabs, armenians, turks, North Africa, Greek or Italian descent. But it can affect people of any ethnic group.

FMF is usually diagnosed during childhood. Although there is no cure for this disorder, you may be able to ease or even prevent the signs and symptoms of FMF according to your treatment plan.

Symptoms

The signs and symptoms of familial Mediterranean fever usually begin during childhood. Occur in the fighting so-called attacks that last from 1 to 3 days. Arthritis attacks can last for weeks or months.

The signs and symptoms of FMF attacks vary, but may include:

  • Fever
  • Abdominal Pain
  • Pain in the chest, which can make it hard to breathe deeply
  • Painful inflammation of the joints, usually in the knees, ankles, and hips
  • A red rash on the legs, especially below the knees
  • Muscle aches
  • Swelling, tenderness in the scrotum

The attacks usually resolve spontaneously after a couple of days. Between the attacks, it is likely that you feel back to your typical health. The symptoms of menstruation can be as short as a few days or several years.

In some people, the first sign of FMF is amyloidosis. With amyloidosis, the amyloid protein, which are not normally found in the body, builds up in organs, especially the kidneys, causing inflammation and interfering with its function.

When to see a doctor

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

Causes

Familial Mediterranean fever is caused by a gene change (mutation) that is passed from parents to children. The change in the gene affects the function of an immune system protein called pyrin, causing problems in the regulation of inflammation in the body.

In people with FMF , the change occurs in a gene MEFV. Many of the changes in the different MEFV are linked to FMF . Some changes can cause very severe cases, while others may result in milder signs and symptoms.

It is not clear exactly what triggers the attacks, but they may occur with emotional stress, menstruation, exposure to cold and physical stress, such as illness or injury.

Risk factors

Factors that may increase the risk of familial Mediterranean fever include:

  • The family history of the disease. If you have a family history of FMF , you have a higher risk of developing this condition.
  • Mediterranean ancestry. If your family can trace its history of the Mediterranean region, the risk of the disease may be higher. The FMF can affect people of any ethnic group, but may be more likely in people of the Jews, Arabs, armenians, turks, North Africa, the Greek or Italian descent.

Complications

Complications can occur if the familial Mediterranean fever is not treated. The inflammation can lead to complications such as:

  • Amyloidosis. During attacks of FMF , your body may produce a protein called amyloid, which are not normally found in the body. The accumulation of this protein causes inflammation, which can cause organ damage.
  • The kidney damage. The amyloidosis, can damage the kidneys, causing the nephrotic syndrome. The nephrotic syndrome occurs when the kidneys are the filtering system (glomeruli) are damaged. People with nephrotic syndrome may lose large amounts of protein in the urine. Nephrotic syndrome can lead to the formation of blood clots in the kidneys (renal vein thrombosis), or renal failure.
  • Pain in the joints. Arthritis is common in people with FMF . The most commonly affected joints are the knees, ankles, and hips.
  • The infertility. Without treatment, the inflammation caused by the FMF can affect the reproductive organs, the cause of the sterility.
  • Other complications. These may include inflammation in the heart, the lungs, the spleen, the brain and the superficial veins.

Familial Mediterranean fever

Diagnosis

Tests and procedures used to diagnose familial Mediterranean fever include:

  • Physical exam. Your doctor may ask you about your signs and symptoms and do a physical exam to gather more information.
  • Review your family medical history. A family history of Familial Mediterranean fever (FMF) increases your likelihood of developing the disease due to this genetic change is passed down from parents to their children.
  • The laboratory tests. During an attack, blood and urine tests may show elevated levels of certain markers that indicate an inflammatory condition in the body. A high level of white blood cells, which fight infection, is one of these markers. Protein in the urine may indicate amyloidosis is another.
  • The genetic testing. Genetic testing can determine if the MEFV gene contains a change in the gene is associated with FMF . The genetic tests are not advanced enough to test for each change in the gene linked to FMF , so there is a possibility of false-negative results. For this reason, health care providers often do not use genetic testing as the sole method of diagnosis of FMF .

Genetic testing for FMF can be recommended for their first-degree relatives, such as parents, siblings or children, or other family members who may be at risk. Genetic counseling can help to understand the changes in genes and their effects.

Treatment

There is No cure for familial Mediterranean fever. However, the treatment can help relieve symptoms, prevent attacks and to prevent the complications caused by the inflammation.

Medications used to relieve the symptoms and prevent the attacks of FMF include:

  • Colchicine. Colchicine (Colcrys), taken in pill form, reduces the inflammation in the body and helps to prevent the attacks and the development of amyloidosis. Work with your doctor to determine the best dose for you. Some people take one dose a day, while others need smaller, more frequent doses. Common side effects include abdominal pain, nausea, and diarrhea. The treatment is usually for life.
  • Other medications to prevent inflammation. For people whose signs and symptoms are not controlled with colchicine, drugs that block a protein called interleukin-1, which is implicated in inflammation, can be prescribed. Canakinumab (Ilaris) is approved by the Food and Drug Administration (FDA) for the FMF . Although not Food and Drug Administration (FDA) has approved specifically for the FMF , other options include rilonacept (Arcalyst), and anakinra (Kineret).

Colchicine is effective in the prevention of attacks of the majority of the people. To decrease the severity of symptoms during an attack, your health care provider may recommend intravenous fluids and medications to reduce fever and inflammation and control the pain.

Regular appointments with your health care provider are important to monitor your medications and your health.

Coping and support

Learning that you or your child has a chronic disease, such as familial Mediterranean fever, can be annoying and frustrating. Here are some tips that may help you cope:

  • Learn aboutFMF. To find out enough about the FMF for you to feel comfortable in making decisions about your or your child's care. Ask your health care provider for good sources of information to help get you started.
  • Find someone to talk to. Talking with a family member, trusted friend or a counselor or therapist can allow you to express your fears and frustrations. Some people also find support groups helpful because the members really understand what is going on. Ask your health care provider if there is a support group for people who have FMF in your area.

Preparing for your appointment

If you have signs and symptoms of familial Mediterranean fever, you can start by seeing your family doctor. Your doctor may refer you to a specialist in inflammatory diseases (rheumatologist).

Because appointments can be brief, and because there's often a lot to discuss, it is a good idea to get prepared. Here's some information to help you prepare for your appointment.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there is anything that you need to do in advance, such as restrict your diet to prepare for the test.
  • Make a list of the symptoms that you are experiencing, including any that may seem unrelated to the reason for the appointment.
  • Make a list of the personal information, including any major stresses or recent life changes.
  • Make a list of all medications, vitamins or supplements you are taking and the dose.
  • Consider the possibility of a family member or friend. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Make a list of questions to ask your health care provider.

Your time with your doctor is limited, so preparing a list of questions can help you make the most of their time together. A list of questions from most important to least important in case time runs out. Questions you might want to ask include:

  • What do you think is the cause of my or my child's symptoms?
  • What caused this condition?
  • What treatments are available?
  • What are the possible side effects of treatment?
  • There are other possible treatments?
  • If other health problems are present, how can they be so treated?
  • Are there any restrictions on the activity?
  • Should my family members be tested?
  • If you want to have more children, I can protect them from this disorder?

What to expect from your doctor

Your health care provider is likely to ask a series of questions, including:

  • When did you first begin experiencing symptoms?
  • The symptoms been continuous or come and go?
  • How long do your symptoms last?
  • What seems to trigger your symptoms, and what warning signs to help predict when they will occur?
  • There is something to do to stop or lessen the severity of your symptoms?
  • Do your symptoms seem to follow a pattern?
  • Do you have blood relatives with familial Mediterranean fever?
Symptoms and treatment of Familial Mediterranean fever