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Familial Mediterranean Fever

Familial Mediterranean fever is an inherited disorder characterized by recurrent fever and inflammation, often involving the abdomen or the lung. The disease occurs within families and is much more common in individuals of Mediterranean descent than in persons of any other ethnicity. It is prominently present in the Armenian people (up to 1 in 7 affected), Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), people from Turkey , the Arab countries and Lebanon . Familial Mediterranean fever is an inherited disorder caused by an abnormal recessive gene (see Inheriting Abnormal Recessive Genes ). Researchers hope that studying how pyrin works will ultimately lead to new, improved treatments for FMF and perhaps for other diseases involving excess inflammation. Patients with normal pyrin/marenostrin levels may have the ability to deactivate the target chemotactic factor when it is produced in response to an inflammatory stimulus.

Most patients present with symptoms before the age of 20 years. It is characterized by episodic bouts of acute peritonitis that may be associated with serositis involving the joints and pleura. Familial Mediterranean fever is typically diagnosed during childhood. Other symptoms that may occur include inflammation of the lining surrounding the heart (pericarditis), inflammation of the testis (orchitis), benign, recurrent inflammation of the membrane that surrounds the brain and spinal chord (meningitis), headaches and amyloidosis. Some people with familial Mediterranean fever who do not receive proper treatment develop amyloidosis, in which an unusually shaped protein called amyloid is deposited in many organs and tissues, impairing their function.

Peritoneal attacks are marked by the sudden onset of fever, severe abdominal pain, and abdominal tenderness with guarding or rebound tenderness. If left untreated, attacks resolve within 24–48 hours. Because symptoms resemble those of surgical peritonitis, patients may undergo unnecessary exploratory laparotomy. Colchicine, 0.6 mg two or three times daily, has been shown to decrease the frequency and severity of attacks.

Secondary amyloidosis (AA protein) with renal or hepatic involvement may occur in 25% of cases and is the main cause of death. Colchicine prevents or arrests further progression of amyloidosis development. In the absence of amyloidosis, the prognosis is excellent. The gene responsible for familial Mediterranean fever (MEFV) has been identified and cloned, and the diagnosis can be established by genetic testing.

Familial Mediterranean fever occurs most commonly among people of Mediterranean origin (for example, Sephardic Jews, Arabs, Armenians, and Turks). However, patients with FMF lack this ability, and this results in uninhibited activity of the chemotactic factor and episodes of inflammation (with associated fever) in the peritoneum, pleura, and joints. The only treatment for FMF is a drug called colchicine, which patients have to take every day for life and which causes side effects such as diarrhea and abdominal cramps. The abnormal gene results in the production of a defective form of pyrin, a protein that regulates inflammation. However, in the United States, about 50% of people with familial Mediterranean fever have no known family history of the disorder. While there's no cure for this disorder, you may be able to relieve your signs and symptoms of familial Mediterranean fever or prevent them altogether by adhering to your treatment.

Causes of Familial Mediterranean Fever

The common causes of Familial Mediterranean Fever :-

  • Although certain mutations are more common in particular ethnic groups, patients usually inherit different mutations from each parent
  • It usually affects people of Mediterranean ancestry, especially non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs, although people from other ethnic groups may also be affected.
  • Homozygotes for M694V (valine for methionine at position 694) may experience more severe disease and may be more likely to develop amyloidosis.
  • Other biologic measures of troubled sleep, however, such as levels of the hormone melatonin, which helps to regulate circadian rhythms and the sleep-wake cycle, appear to be normal in most fibromyalgia sufferers.
  • It may be that people with a mutation in this gene don't make a protein that inhibits the inflammatory response in certain parts of the body.
  • Primary (idiopathic) fibromyalgia -- the causes are not known

Symptoms of Familial Mediterranean Fever

Some are common symptoms of Familial Mediterranean Fever :-

  • Fever or alternating chills and fever (relapsing)
  • Pain over the small joints of the foot or hand
  • Chest attacks with pleuritis (inflammation of the pleural lining) and pericarditis (inflammation of the pericardium ). Pleuritis occurs in 40%, but pericarditis is rare.
  • Erysipeloid (a skin reaction on the legs, rare in isolation)
  • Foot pain , pain over the small joints of the foot
  • Hand pain, pain over the small joints of the hand

Treatment of Familial Mediterranean Fever

  • In patients whose conditions do not respond to colchicine, the use of interferon alfa or the tumor necrosis factor–blocking drug etanercept may be effective. However, 2 recent studies from Turkey reached opposite conclusions about the effectiveness of interferon alfa therapy.
  • Treat patients with fibromyalgia with the usual agents for this condition.
  • . Before colchicine therapy was developed in 1972, people with familial Mediterranean fever often required dialysis, a procedure that removes wastes from the blood using special equipment, or kidney transplants because their kidneys eventually failed.
  • Colchicine, a medicine that reduces inflammation, may help during an attack and to prevent further attacks
  • People who are able to "predict" an impending attack are often able to stop those attacks before they start by taking colchicine. However, taking colchicine after your symptoms appear is not effective.
  • Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks.

 


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