FEATURES OF ALLERGIC STATUS IN A PATIENT WITH DESMINOPATHY T341P

Abstract

Introduction. Since desminopathies represent rare or so-called “orphan” diseases, little is known about the sensitivity of their patients to allergens and physical factors. Aim. The study set out to investigate the allergic status of a patient with desminopathy T341P in a heterozygous state. Materials and methods. The retrospective study is based on a case of familial desminopathy identified in south of Western Siberia. Quantitative analysis of total and specific immunoglobulins in the blood and coprofiltrate of a proband with desminopathy was carried out by turbidimetric and chemiluminescence immunoassay, enzyme allergosorbent testing, as well as enzyme immunoassay. Results. The proband with desminopathy is evaluated as having a polyvalent allergy to plant-, food- and infectious allergens. Specific IgE antibodies to pollen of early-blooming meadow grasses and Secale cereale, as well as cow’s milk, Mucor racemosus and Fusarium moniliforme fungi, were found in the blood. The coprofiltrate revealed specific IgE to pollen of early-blooming meadow grasses and trees, as well as chicken eggs and casein. While, at the onset of clinical manifestations of desminopathy, the level of total IgE in the blood of the proband exceeded the reference values by two times, it has decreased by 5.5 times over the past 10 years. Over the past two years, the total concentration and average level of specific IgG4 antibodies to food allergens in the blood increased by 15%. Provocation tests for cold- and cholinergic urticaria were positive. Conclusion. A respiratory allergy, which had emerged by the age of 20, was most likely a trigger for the desminopathy T341P. Especially at this age, the proband developed ventricular extrasystole, as well as a barely perceptible decrease in physical strength. Then, from the age of 30, there was a progressive weakness of the skeletal muscles and a noticeable decrease in physical strength, followed by the full development of the disease, which began after the age of 40. In combination with excessive bacterial growth of the intestinal and oral microbiota, and an increase in endotoxin, polyvalent allergies with a high concentration of specific IgG4 antibodies and other (sub)classes can participate in the etiology and pathogenesis of desminopathy T341P.