PERIODIC DISEASE (synonym: the Armenian disease, Dzheynueya — Mozentalya a paroxysmal syndrome, peritonitis periodic, Reymanna a syndrome, Sigala — Mother a disease, the Mediterranean family fever) — rather rare genetically caused disease which is shown periodically recurrent serositis and rather frequent development of an amyloidosis.
The first description of a disease belongs to 17 century, but only in 1949. Segal (Sh. Siegal) in detail stated and systematized its wedge, signs, paid attention to ethnic selectivity and the hereditary nature of pathology. In domestic medical literature of P. E is for the first time described in 1959. M. Tareev and V. A. Nasonova. Nosological form P. it was recognized only in the 70th. The disease occurs preferential at representatives of nationalities which ancestors lived in the basin of the Mediterranean Sea, especially at Armenians, Jews (is more often than Sephardic Jews), Arabs, and only in 6% of all cases at persons of other nationalities.
Lack of influence of geographic latitudes on spread of a disease is established. The disease begins preferential at children's and youthful age irrespective of a floor.
Etiology it is insufficiently studied. At stanovlen an autosomal and recessive mode of inheritance of P. Assume existence at patients of inborn metabolic and euzymatic defect which involves disturbance of immune and endocrine systems, protein synthesis, proteolysis.
Pathogeny in many respects it is not specified yet. In a basis the wedge, a recurrence of a disease lies a high-quality superficial aseptic inflammation of serous covers, hl. obr. peritoneums, pleurae, synovial covers. Inflammatory reaction begins with degranulation of cells.
Disturbance of cellular metabolism would be demonstrated by frequent development at P. amyloidosis (see) irrespective of weight of a current of P., what allows to assume its genetic conditionality. Allow existence of two genotypic manifestations. At a genotype of I initially there would be P.'s attacks., then the amyloidosis can join. At a genotype the II amyloidosis develops the first, and P.'s attacks would appear then. Along with it P.'s cases would meet. without amyloidosis and cases when the amyloidosis is the only display of a disease.
Pathological anatomy. Despite hron, P.'s current., rough anatomic changes are not formed. In the mezhpristupny period find the insignificant number of gentle commissures in the field of a recurrent inflammation. During a bad attack of P. there are all signs of a superficial aseptic inflammation of serous covers. The small serous exudate, an injection and a hyperpermeability of vessels, nonspecific cellular reaction is possible, the moderate hyperplasia limf, nodes is more rare. The amyloidosis, at its existence, has generalized character with preferential damage of kidneys. On gistoimmunokhy. to properties an amyloidosis at P. it is close to a secondary amyloidosis.
Clinical manifestations and current. Depending on the prevailing manifestations allocate four a wedge, option P.: abdominal, thoracic, joint and feverish.
The abdominal option meets most often and at the developed picture is characterized by symptoms acute abdomen (see) with the phenomena of partial intestinal obstruction (see. Impassability of intestines ), what is confirmed radiological, and peritonitis (cm) At an operative measure concerning an estimated acute appendicitis, acute cholecystitis or enteric impassability find only symptoms of superficial serous peritonitis and moderate commissural process. Unlike acute surgical diseases of an abdominal cavity all symptoms disappear spontaneously in 2 — 4 days. In rare instances, usually after repeated operative measures, mechanical intestinal impassability, invagination or torsion of guts can develop that is promoted by the expressed Diskinetichesky processes in went. - kish. a path and bilious ways, P. caused actually. and clearly found at rentgenol, the research of patients which is especially conducted to time of acute abdominal pains. The abdominal attacks, having appeared, accompany the patient throughout all life, tend to an urezheniye with increase in age and at development of an amyloidosis.
Thoracic option P. it is observed less often it is characterized by an inflammation of a pleura, a cut arises in one, in other half of a thorax, is rare in both. Complaints of the patient and these inspections correspond a wedge, a picture pleurisy (see), dry or with an insignificant exudate. All signs of an exacerbation of a disease spontaneously disappear in 3 — 7 days.
The joint option arises less often than others in the form of recurrent synovitis (see). P it royavlyatsya by arthralgias, mono - and polyarthritis. More often large joints, especially talocrural, knee are surprised. The attacks of a disease at its joint option are transferred easier, than at other options, recur less often, sometimes proceed at a standard temperature and only at the prolonged arthritises lasting more than 2 — 3 days passing osteoporosis can be observed.
Feverish option P. as independent it is necessary to distinguish from fevers (see), the disease accompanying any option. In the latter case temperature increases soon or along with emergence of pains, sometimes is followed by a fever, reaches various level and decreases to normal figures through 6 — 12, 24 hours are more rare. At feverish option P. fever is the leading symptom of a palindromia; attacks remind malarial paroxysms. They arise seldom, usually in an onset of the illness, then, unlike the attacks at abdominal option, the same as the joint and thoracic attacks, can disappear completely. In certain cases diseases the combination of its various options is possible, to-rye are most often shown in a rhythm inherent to them.
Disease — chronic recurrent, usually high-quality. Aggravations proceed in the same way, differing only on weight and duration. Laboratory indicators at each aggravation reflect only extent of inflammatory reaction and are normalized in process of subsiding of an acute phase of a disease.
At 30 — 40% of patients the amyloidosis which can lead to a renal failure develops. The amyloidosis arises irrespective of a wedge, P.'s manifestations., its duration, frequency and expressiveness of attacks.
Diagnosis put taking into account the following criteria: 1) the onset of the illness at children's or youthful age, is preferential among certain ethnic groups; 2) frequent detection of a disease at relatives; 3) periodically arising short attacks of a disease (abdominal, thoracic, joint, feverish) which are not connected with certain provocative reasons differing in stereotype; 4) frequent detection of an amyloidosis of kidneys. Laboratory indicators are generally not specific and reflect sharpness of inflammatory reaction or degree of insufficiency of kidneys.
Differential diagnosis carry out depending on a wedge, option P. with pneumonia (see), pleurisy of a different etiology (see. Pleurisy ), acute appendicitis (see), acute cholecystitis (see), various forms arthritises (see), rheumatism (see), collagenoses (see. Collagenic diseases ), malaria (see), sepsis (see), acute inf. diseases (at feverish option). At the first manifestations of P. differential diagnosis happens very difficult and is based on a careful exception of all diseases with similar symptomatology. At repeated palindromias consider above-mentioned criteria and the fact that for P. the wedge, aggravations are characteristic good health of patients during the mezhpristupny period and resistance to any therapy, including antibiotics and glucocorticoids in time.
Treatment is developed insufficiently. Till 70th it was only symptomatic. In 1972 data on an opportunity to warn P.'s attacks began to appear. intake of colchicine in a daily dose from 0,6 to 2 mg. Further preventive efficiency of colchicine, and also lack of collateral manifestations at long reception of the specified doses both at adults, and at children was confirmed. The mechanism of effect of drug is not clear yet. There are data on its influence on fibrillar intracellular structures, a cut consists in prevention of degranulation of cells that interferes with development of an inflammation.
Forecast for life favorable. P.'s presence. usually does not interfere with physical and intellectual development, marriage. Very frequent attacks of a disease can be the cause of disability, and development of an amyloidosis in some patients (is more often to 40-year age) leads to a renal failure and an invalidism.
Bibliography: Vinogradova O. M. Periodic disease, M., 1973; Heller H., S about h a r E. P r a s M. Ethnis distribution and amyloidosis in familial Mediterranean fever, Path, et Microbiol. (Basel), y. 24, p. 718, 1961; L ehma n T. J. a. o. Long-term colchicine therapy of familial Mediterranean fever, J. Pediat., v. 93, p. 876, 1978; Siegal S. Benign paroxysmal peritonitis, Gastroenterology, v. 12, p. 234, 1949.
O. M. Vinogradova.