• Terapevt Arkh · Dec 2020

    Case Reports Classical Article

    [Clinical case of combined genetic pathology in a patient].

    • E A Losik, I I Yakushina, M R Skhirtladze, N P Balahonova, V V Kerchev, and I A Garanina.
    • Sechenov First Moscow State Medical University (Sechenov University).
    • Terapevt Arkh. 2020 Dec 15; 92 (12): 180184180-184.

    AbstractFamily hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.911.6 mmol/l. Gilberts syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.

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