Familial Mediterranean Fever

Introduction to familial Mediterranean fever Familial Mediterranean fever is a spontaneous autosomal recessive disorder of unknown etiology, most of which occur in ethnic groups of the Mediterranean, especially non-Central European Jews, Armenians, Turks, and Levant Arabs. Mostly for children, accompanied by fever and one or more inflammatory manifestations, such as peritonitis, arthritis, pleurisy, erysipelas-like erythema. basic knowledge The proportion of illness: 0.002% Susceptible people: no specific population Mode of infection: non-infectious Complications: peritonitis proteinuria nephrotic syndrome

Familial Mediterranean fever

(1) Causes of the disease

The disease is a spontaneous autosomal recessive disorder of unknown etiology.

(two) pathogenesis

Familial Mediterranean fever patients lack a inflammatory mediator C5a that is resistant to the salvage pathway and inhibit neutrophil chemotaxis, Con-A-induced inhibition is reduced, and C5a inhibitors are deficient in the patient's synovial and peritoneal fluids. On the onset of IL-1, TNF is easy to "deplete". The genes that cause familial Mediterranean fever in non-Central European Jews are mainly on chromosome short arm No. 16, and the high frequency of familial Mediterranean fever genes increases the probability of offspring becoming sick. Not homozygous.

Familial Mediterranean heat prevention

To carry out marriage and birth guidance, strive to reduce the incidence of genetic diseases in the population, and improve the quality of the population must take effective preventive measures to avoid the birth of genetic diseases (ie, the implementation of eugenics) and genetic variation, taking the usual measures including: premarital examination , genetic counseling, prenatal testing and early treatment of genetic diseases.

Familial Mediterranean thermal complications Complications peritonitis proteinuria nephrotic syndrome

The disease can be complicated by peritonitis, proteinuria, periodic arthritis syndrome, nephrotic syndrome and the like.

Familial Mediterranean fever symptoms Common symptoms Nephrotic syndrome Constipation erysipelas pericarditis Peritonitis Diarrhea Proteinuria Acute abdomen

Fever usually lasts for 1 to 3 days, may have peritonitis, and constipation is more than diarrhea, pleurisy is common, if not diagnosed, familial Mediterranean hot peritonitis often leads to unnecessary acute abdomen surgery, usually within a few days Spontaneous relief, joint pain is a common symptom of familial Mediterranean fever. Arthritis usually involves a single large joint with acute pain and swelling. It usually resolves after 2 to 3 days, although it also lasts for a long time, especially if the hip joint is involved, the swelling is slight. However, the pain can be very serious. Compared with most other periodic arthritis syndromes, permanent joint damage does not occur, pericarditis is rare, 3% of adolescent boys have scrotal pain, skin manifestations are occasionally, mainly erysipelas-like erythema, diameter 10 ~ 25cm, mostly in the lower part of the waist, as well as scattered tenderness purple spots, 10% to 50% have splenomegaly, AA type (protein-derived amyloid) amyloidosis is more common, about 20%, occurs in Jews The rate is up to 2%, and proteinuria and nephrotic syndrome can occur.

Familial Mediterranean heat check

Including erythrocyte sedimentation rate, synovial white blood cell count increased in the attack period, nucleus left shift, IgG, IgM moderate increase, 10% IgD, 25% IgA increase, RF, ANA negative, amyloidosis is mainly based on tissue section Congo red staining is characterized by a characteristic apple green birefringence under a polarizing microscope. If the AA protein monoclonal antibody is positively stained, it is of great value for the diagnosis of AA amyloidosis.

Synovial biopsy is not obvious, X-ray may show no special joint space stenosis, sclerosis and osteophyte formation.

Familial Mediterranean thermal diagnosis

According to clinical manifestations, laboratory-checked monoclonal antibody staining can be diagnosed.

Need to be differentiated from amyloidosis, peritonitis, pleurisy, proteinuria, periodic arthritis syndrome, nephrotic syndrome-related diseases.

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