периодическая болезнь

[Люда]

У моего знакомого мальчика, приехавшего из Армении, появились приступы боли в животе, а теперь и боли в суставах. Диагносцировали периодическую болезнь. Что это такое и где узнать об этом поподробнее?

[Boris]

Where was this diagnosis made? What hospital? Which specialist saw him?

[GurMin]

Добрый день!
Действительно есть такая болезнь, встречается в основном у людей армянской национальности (даже одно из названий "армянская болезнь).
Здесь вкратце ее описали:

http://my.webmd.com/hw/arthritis/nord127.asp

[Gallblader]

Hi!
Familial mediterranean fever (familial paroxysmal peritonitis): An inherited disorder characterized by recurrent fever and peritonitis and less frequently by pleuritis, arthritis, skin lesions, and pericarditis.

Most frequently, but not exclusively, persons of Mediterranean origin (eg, Sephardic Jews, Arabs, Armenians, Turks) are affected. A sufficient number of cases have occurred in other groups, particularly Ashkenazic Jews, to caution against excluding the diagnosis on the basis of atypical ancestry. About 50% of patients have no family history of the disorder.

The disorder is inherited as an autosomal recessive trait; the causative gene on the short arm of chromosome 16 has been cloned. The gene product, a 781 amino acid protein called pyrin by one group of discoverers and marenostrin by another, appears to be expressed only in circulating neutrophils. It is believed to attenuate the transcription of proinflammatory promoters by these cells.

Symptoms, Signs, and Diagnosis
Onset is usually between the ages of 5 and 15 but may be much later or even during infancy. Attacks have no regular pattern of recurrence and vary in the same patient. They usually last 24 to 72 h, but some last >= 1 wk. Frequency ranges from two attacks per week to one per year (most commonly once every 2 to 4 wk). Severity and frequency tend to decrease with age, during pregnancy, or with amyloidosis. Spontaneous remissions may last years.

Fever as high as 40° C (104° F), usually accompanied by peritonitis, is the major manifestation; occasionally, serositis occurs with a low fever. Abdominal pain (usually starting in one quadrant and spreading to the whole abdomen) occurs in about 95% of patients and can vary in severity with each attack. Decreased bowel sounds, distention, guarding, and rebound tenderness are likely to occur at the peak of an attack and cannot be differentiated from a perforated viscus on physical examination. Consequently, many patients have undergone urgent laparotomy before the correct diagnosis was made. With diaphragmatic involvement, splinting of the chest and pain in one or both shoulders may occur. Other symptoms include acute pleuritic pain (in 75%), acute arthritis involving the large joints (in 25%), and an erysipeloid rash of the lower leg. Recurrent pericarditis with chest pain is relatively rare.

No laboratory test is diagnostic. No specific pathologic changes are found. Laparotomy at the peak of an attack may yield a small amount of peritoneal fluid containing neutrophils; serosal biopsy may show fibrin deposition. Amyloidosis may develop (most frequently in patients in the Mediterranean region) due to perivascular deposition of serum amyloid A protein; it is much less common since the advent of colchicine. During acute attacks, polymorphonuclear leukocytosis is frequently, but not invariably, found. Results of acute phase reactant tests (ESR, serum fibrinogen, C-reactive protein) are likely to be elevated. Results of other laboratory tests are normal.

Consequently, diagnosis is made more on the basis of clinical than on laboratory findings, including a typical presentation (appropriate ethnicity; a positive family history; recurrent, self-limited peritonitis; excellent health between episodes).

Prognosis, Prophylaxis, and Treatment
Despite the severity of symptoms during acute attacks, most patients recover swiftly and remain free of illness until their next attack. Widespread use of prophylactic colchicine has been associated with a dramatic reduction in the incidence of amyloidosis and subsequent renal failure.

Prophylactic colchicine 0.6 mg po bid (some patients require qid dosage and others a single daily dose) provides complete remission or distinct improvement in about 85% of patients. For patients with infrequent attacks having a definite prodromal phase, colchicine can be reserved until initial symptoms occur and then begun at 0.6 mg/h po for 4 h, then q 2 h for 4 h, then q 12 h for 48 h. Initiation of colchicine at the peak of an attack, even if delivered IV, is unlikely to be beneficial. Children often require adult dosages to achieve effective prophylaxis. Colchicine does not add to the increased risk of infertility and miscarriage among affected women, nor does it increase the number of teratogenic events when taken during pregnancy.

Narcotics are sometimes needed for pain relief but should be administered prudently to avoid drug addiction.

Good Luck!

[Люда]

Спасибо большое за информацию.