Familial Mediterranean fever is a genetic disease that primarily affects the inhabitants of the Mediterranean or the Middle East. Its most characteristic symptom is attacks of abdominal pain accompanied by fever. If the diagnosis is not correct in time, familial Mediterranean fever can have serious consequences.

Familial Mediterranean Fever( Familial Mediterranean Fever , FMF) is an autosomal recessive disease associated with a mutation in the MEFV gene in the 16p13 locus, encoding the protein pyrine (marenostrin), which plays a role in the natural fight against inflammation. This mutation causes the gene to malfunction and the patients suffer from fever attacks. It is the uncontrolled and pointless work of the immune system.

Epidemiological studies show that the disease originated in Mesopotamia, it was described about 2500 years ago. As a result of migration, it spread to the areas of the Mediterranean and the Middle East, but also to Japan and North America. Familial Mediterranean fever is therefore most common among Jews, Turks, Armenians and Arabs. These are high-risk populations and the incidence is 1-3 cases per 1000 people. In Italians, Greeks, French, Germans or Americans - less often. In Poland, the disease appears very sporadically.

Symptoms of familial Mediterranean fever

The first symptoms usually appear before the age of 20, with half of the patients it is the first decade and more often in boys than in girls. During an attack (once a week, several times a year), the chemotactic activity of neutrophils (also known as neutrophils, NEU), which attacks the serous membranes, increases. Why the membranes - it is not known. The patient has:

  • recurring episodes of fever 38-40 degrees C
  • abdominal pain or pleural pain
  • diarrhea
  • joint pain, mainly knee, ankle, wrist (one or two), which in 5-10 percent. cases lead to its damage
  • rash, rose-like erythema on lower legs, ankles, back of the foot

An attack is usually caused by, for example, high stress (both physical and emotional), menstruation, but also a fatty meal. Therefore, it is not difficultconfuse family Mediterranean fever with, for example, indigestion. Especially that these symptoms last about 3 days, then disappear spontaneously, and the patient feels completely normal again. The disease is also sometimes confused with appendicitis, cholecystitis, renal colic, intestinal obstruction, pericarditis or meningitis. Abdominal symptoms in particular sometimes lead to unnecessary surgical interventions. As children develop fever and abdominal pain very often and for various reasons, it is extremely difficult to diagnose this disease, especially in high-risk populations.

Diagnosis of familial Mediterranean fever

Due to the similarity of the symptoms of familial Mediterranean fever to other diseases, correct diagnosis is very difficult. An interview in terms of origin is necessary. If your child develops symptoms that the doctor may suggest having this condition, he or she will want to know if the parents also have symptoms. Genetic testing is only helpful in countries where the disease is not very widespread. The key to diagnosis may sometimes be the presence of protein in the urine (persistent proteinuria between attacks indicates amyloidosis), and the disease is confirmed by a positive response to colchicine.

Laboratory tests are also helpful, but unfortunately only to a certain extent. Inflammatory markers, such as ESR and CRP, are elevated during the attack, there may also be slight leukocytosis, thrombocytopenia in children, elevated immunoglobulins, haptoglobins and fibrinogen.

However, after an attack of the disease, unfortunately, these results return to normal in 30 percent. patients, in others they drop, but remain slightly elevated. If the proteinuria persists, your doctor may order a rectal biopsy. If it does not show amyloid, a kidney biopsy is required to confirm the diagnosis.

Familial Mediterranean fever: treatment

Familial Mediterranean fever must be treated - otherwise the disease may lead to very dangerous complications. The most serious is the development of amyloidosis. Amyloid is a protein that accumulates in the kidneys, gastrointestinal tract, heart and skin and leads to a gradual loss of their functions. Kidney failure has particularly serious he alth consequences. Affected individuals also have a greater risk of developing polyarteritis nodosa and Henoch-Schönlein purpura than the general population. There is also a variant of the disease in which there is neither fever nor other common symptoms. It leads to secondary amyloidosis.

Wcolchicine is used throughout life in family therapy for Mediterranean fever. It is a safe and inexpensive treatment that can cause diarrhea as a side effect, but it stops when the dose is adjusted accordingly. Colchicine makes the attacks of the disease go away completely or the symptoms are significantly alleviated. A child, and later an adult suffering from familial Mediterranean fever, must have their urine tested for protein twice a year. Discontinuation of the drug causes the attacks of the disease and the risk of amyloidosis to return.

Category:

Genetic diseases