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Familial Mediterranean fever


Disease: Familial Mediterranean fever Familial Mediterranean fever
Category: Infectious diseases

Disease Definition:

Familial Mediterranean fever is a rare disorder in which a person experiences recurrent fevers and painful inflammation of the abdomen, joints and lungs.


FMF is an inherited inflammatory disorder, and even though it could affect people of any ethnic groups, but it usually affects people of Mediterranean origin, such as Armenians, Sephardic Jews, Turks and Arabs.


Usually FMF is diagnosed during childhood. Despite the fact that this disorder has no cure, but its signs and symptoms could be relieved or even prevented by adhering to treatment.

Work Group:

Symptoms, Causes


90% of people diagnosed with FMF are younger than 20 years, and its signs and symptoms begin during childhood. The signs and symptoms of this disorder are collectively referred to as “attacks” and usually occur with little warning. These attacks last two to three days and their intensity reach its peak within the first 12 to 24 hours. Some of the typical signs and symptoms of this disorder include:


  • Abdominal pain
  • Achy, swollen joint
  • Recurrent chest pain
  • Diarrhea preceded by constipation
  • A red rash on the legs, particularly below the knees
  • A sudden fever that ranges from about 37.8 C to 40C (100 F to 104 F)


Some of the less common signs and symptoms of this disorder include:


  • Muscle aches
  • A swollen, tender scrotum
  • Vasculitis, which is inflammation of blood vessels
  • Pelvic inflammatory disease


Despite the fact that some people have reported that their attacks have been provoked by vigorous exercise or stress, but usually, the attacks occur sporadically. Between the attacks, the patient will likely feel normal. The periods of time in which the patient is symptom-free could range from a week to months.


In case someone experiences a sudden fever accompanied by pain in the abdomen, joints and chest, they should see a doctor, so that the cause of the symptoms can be determined.


Typically, the medication colchicine could control FMF quite well. In case someone is taking this medication for FMF and experiences some of these symptoms, they should consult a doctor:


Chronic pain:

If someone has persistent pain that isn’t relieved by medication, they should see a specialist in pain management.


Diarrhea, nausea or vomiting:

Usually, the side effects of colchicines are mild, but if someone experiences these symptoms, it could mean that their medication dose needs to be adjusted.


Ongoing attacks:

A person should talk to a doctor about other treatment options such as dietary changes in case carefully adhering to colchicine therapy isn’t preventing their attacks.
The patient should also call their local emergency number immediately in case he/she experiences sudden worrisome signs or symptoms, including fainting or shortness of breath.


A gene defect on chromosome 16 is the cause of familial Mediterranean fever. Typically, each person has 46 chromosomes in 23 pairs. The genetic code for a protein called pyrin that is involved in regulating inflammation is carried by the gene called MEFV. In the MEFV gene, more than 50 different mutations have been identified, including one that’s found more frequently in Arabs and North African Jews, known as (M694V). Exactly how this defect causes familial Mediterranean fever is still not known, however, it could be that people with this mutation don’t make pyrin, and so inflammatory responses aren’t regulated and could be quite severe.


The mutated gene of familial Mediterranean fever should be inherited from each parent for a person to develop this condition because it is inherited as an autosomal recessive trait.



In case familial Mediterranean fever isn’t treated, or if it’s treated irregularly, complications could result, such as:


Nephrotic syndrome:

When the kidneys’ filtering systems (glomeruli) are damaged, this syndrome occurs in which people lose large amounts of protein in their urine, and have swollen hands and feet. This syndrome could cause kidney failure or blood clots in the kidneys, known as renal vein thrombosis.



In this condition, a protein called amyloid A deposits in the patient's organs. This is the most common complication of untreated FMF. In case someone has familial Mediterranean fever, amyloidosis will affect their kidneys, causing a kidney disorder called nephrotic syndrome.


Chronic arthritis:

This condition is quite common in people with FMF. The knee, hip, elbow and ankle are the most commonly affected joints. Usually, this condition resolves without joint destruction.



The reproductive organs could be affected due to inflammation caused by FMF. About 25% of women who have FMF and become pregnant experience miscarriages and about one-third of the women with this condition are infertile.


General discomfort:

FMF could interfere with the patient's daily life and in order to be more comfortable, the patient may be recommended narcotics, which are strong pain medications.


Effective treatment exists for familial Mediterranean fever, despite the fact that it has no cure. A drug called colchicine is the most successful treatment for FMF.


To reduce inflammation in the body, colchicine is usually taken as a pill. Some people could take only one dose a day in order to prevent attacks, while others could take multiple doses. In case people are able to “predict” an impending attack, they could prevent it by taking colchicine before the attack starts. However, taking colchicine after the symptoms have started will not be effective.



Colchicine will probably reduce the frequency and intensity of symptoms in case the patient sticks to its schedule. This drug will also reduce the risk of amyloidosis or other complications. Muscle weakness, particularly in older men who are heavy drinkers or whose kidneys aren’t functioning properly, pain, tingling or numbness in the hands or feet are some of the side effects of colchicines. Generally, colchicine therapy is considered a safe one even when taken for decades. The patient may be recommended other medications in case colchicine does not control their symptoms, these medications include etanercept, anakinra, thalidomide, infliximab or interferon alpha.


In addition to colchicines therapy, as the ages or becomes pregnant, they may notice that the frequency and the severity of their symptoms lessen. Although it’s not clear why symptoms could improve at either of these times, however, it could be related to some changes in the immune system.


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