Familial Mediterranean Fever

The familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease that pericarditis characterized by repeated attacks of fever and peritonitis, sometimes with pleurisy, skin lesions, arthritis, and very rarely. Renal amyloidosis can develop, sometimes leading to kidney failure. People with genetic origin in the Mediterranean are more likely than other ethnic groups affected. The diagnosis is mainly clinically detected, although now a genetic test is possible. The treatment consists of a prophylactic administration of colchicine, which can prevent acute attacks and renal amyloidosis in most patients. The prognosis is excellent with treatment.

The familial Mediterranean fever occurs mostly in people who have their genetic origins in the Mediterranean, such as the Sephardic Jews, North African Arabs, Armenians, Turks, Greeks and Italians. However, there are enough cases of many other ethnic groups (eg. As Ashkenazi Jews, Cubans, Belgians), so caution is advised and the diagnosis should not be excluded solely on the basis of origin. Approximately 50% of patients have a positive family history, mostly the siblings are affected.

The familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease that pericarditis characterized by repeated attacks of fever and peritonitis, sometimes with pleurisy, skin lesions, arthritis, and very rarely. Renal amyloidosis can develop, sometimes leading to kidney failure. People with genetic origin in the Mediterranean are more likely than other ethnic groups affected. The diagnosis is mainly clinically detected, although now a genetic test is possible. The treatment consists of a prophylactic administration of colchicine, which can prevent acute attacks and renal amyloidosis in most patients. The prognosis is excellent with treatment. The familial Mediterranean fever occurs mostly in people who have their genetic origins in the Mediterranean, such as the Sephardic Jews, North African Arabs, Armenians, Turks, Greeks and Italians. However, there are enough cases of many other ethnic groups (eg. As Ashkenazi Jews, Cubans, Belgians), so caution is advised and the diagnosis should not be excluded solely on the basis of origin. Approximately 50% of patients have a positive family history, mostly the siblings are affected. The etiology familial Mediterranean fever is caused by a mutation in the MEFV gene on the short arm of chromosome 16 and is transmitted as an autosomal recessive trait. The MEFV gene normally encodes (or Pyrin Marenostrin), which is expressed in circulating neutrophils for a protein. His job is probably the attenuation of inflammation, possibly by inhibiting the activation of neutrophils and chemotaxis. Gene mutations lead to defective Pyrinmolekülen. It is believed that the altered Pyrin can not suppress smaller, unknown triggers inflammation, which are usually mediated by an intact Pyrin. The clinical result is a spontaneous attack of fever with a predominantly neutrophilic inflammation in the abdominal cavity and elsewhere. Symptoms and signs The illness usually begins between the 5th and 15th year of life, but can also occur later or even in infancy. The seizures occur irregularly. They last 24 to 72 hours, in some cases even longer. The frequency of seizures varies between two seizures a week to one attack per year (in most cases occurs every 2-6 weeks a seizure on). Severity and frequency decrease with increasing age, during pregnancy or in patients with amyloidosis often from. Spontaneous remissions can last for several years. The main symptom is fever up to 40 ° C, usually accompanied by a peritonitis. In 95% of patients experience abdominal pain (which usually start in a quadrant and then spread throughout the abdominal cavity), which may vary in severity from attack to attack. At the height of an attack can cause symptoms such as attenuated bowel sounds, billowing abdomen, guarding and reactive pain that can not be distinguished on physical examination of a bowel perforation. Therefore some patients a Notlaparotomie be subjected to before the correct diagnosis is made. In diaphragmatic involvement may lead to tightness in the chest and pain in one or both shoulders. Other symptoms include acute pleuritic pain (30%), arthritis (at 25%) in the region of the knee, ankle and hip, erysipelähnliche reddening of the skin in the area of ??the lower leg, swelling of the scrotum and pain caused by inflammation of the tunica vaginalis testis. A recurrent pericarditis with chest pain is relatively rare. The pleural, synovial and dermal manifestations of FMF vary in frequency among different populations and are found less frequently in the United States than in other countries. The most common long-term complication of the FMF is a chronic renal failure caused by the deposits of amyloid in the kidneys. Amyloid may also be in the gastrointestinal tract, liver, heart, deposited in the testicles and in the thyroid. Familial Mediterranean Fever causes infertility or miscarriage in about one-third of women because tumors form that hinder conception. In women with familial Mediterranean fever about 20-30% of pregnancies end in miscarriage. Despite the severity of symptoms in acute attack, most patients recover quickly and remain until the next attack disease-free. Diagnosis Clinical evaluation genetic testing, the diagnosis is made clinically. Meanwhile, however, a genetic testing is possible, especially when atypical cases useful. However, current genetic tests are not error-free; in some patients with phäntotypisch unequivocal FMF only one mutated gene can be detected, many times is even not a single Pyrinmutation be seen. Non-specific findings are increased leukocytes with a preponderance of the segmented nuclei, increased BKS, CRP, and increased fibrinogen. A urine excretion> 0.5 g protein / 24 h indicates a renal amyloidosis. The differential diagnosis should include acute intermittent porphyria, a hereditary angioedema with abdominal attacks, pancreatitis and other hereditary types of renewed fever attack. Colchicine treatment by the prophylactic administration of colchicine 0.6 mg p.o. 2 times a day (some patients require daily dosing times, others a single dose) is there in 85% of patients complete remission or a significant improvement. In patients with seizures and rare significant prodromal colchicine can be added after the first symptoms appear, initially 0.6 mg p.o. every hour for 4 hours, then every 2 h for 4 hours, then every 12 h for 48 h. The use of colchicine at the height of an attack himself at i.v. Application hardly a positive effect. Children often need an adult dose to achieve an effective prophylaxis. The broad, prophylactic use of colchicine is associated with a dramatic decline in the incidence of amyloidosis and a consecutive renal failure. Colchicine does not result in the affected women to an increased risk of miscarriage and Infertilitäts- and not increase the number of teratogenic damage when taken during pregnancy. Poor compliance in taking medication often leads to a lack of response to colchicine, but it can also be a poor correlation, if a decreased Colchicinkonzentration present in the monocytes. Alternative treatments for patients who do not respond to, infliximab are 5 mg / kg i.v. every 8 weeks, anakinra 100 mg s.c. once a day and rilonacept 2.2 mg / kg s.c. weekly. For pain relief opioids must be used sometimes. However, it should be handled with care so because of a possible dependence. Summary Familial Mediterranean Fever is caused by an autosomal recessive mutation in a protein which there is to modulate the inflammatory response in neutrophils. People with genetic origin in the Mediterranean are often (but not exclusively) concerned. Patients have short bouts of fever, abdominal pain and sometimes other symptoms such as pleurisy, arthritis and skin rash. Renal amyloidosis, which sometimes leads to kidney failure, the most common complication. However, prophylactic Colchicingabe provides protection against the amyloidosis. The diagnosis is made clinically, but should genetic testing when atypical cases are used. Daily colchicine leads in most patients to a significant protection against attacks, but some also require an immunomodulator such as infliximab, anakinra or rilonacept.

Health Life Media Team

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