Academician NP Backova (MGNC) recorded two incompatible diseases in a patient for the first time in the world: heterozygous family hypercholesterolemia and heterozygous sytterolemia. In the first case, the patient accumulates cholesterol in the form of atherosclerotic plaques and the second disease excludes it: with it, a plant of plant origin accumulates with it, not on the walls of the blood vessels. This “Gazeta.ru” was told about the Russian Federation at the Ministry of Education and Science.
Born in 1978, the patient was only 45 years old. The diagnosis path lasted for more than 10 years. On the one hand, there were deep xanthmis (subcutan cholesterol deposits), a cardiovascular disease progressed, the family has cases of death from these diseases-this family is typical for hypercholesterolemia.
However, at the same time, the patient is not a low -density lipoprotein level that is noted with such a diagnosis. Patients with this disease, as a rule, earn 6 to 10 points according to the Netherlands Lipid Clinic Network Evaluation system. The patient won 20 points. In addition, the aggressive course of atherosclerosis forced us to think about another hereditary disease – Sievesterlet. With family hypercholesterolemia, low -intensity lipoprotein change is impaired and vegetable oil, sievesterol exchange, blood levels increase by 30-100 times with sievesterolemia.
The patient, an academician by a geneticist NP Backova. As a result of molecular diagnosis, doctors confirmed the combination of the world’s first heterozygous family hypercholesterolemia and heterozygous sievesterolemia.
“The patient’s clinical symptoms were shown with both family hypercholesterolemia and sievesterolemia, but the combination of these two diseases looked almost incredibly incredibly. According to the latest international estimates, the prevalence, prevalence, at least 1 case worldwide.
The patient was recommended to comply with a reduced amount of vegetable sterols and animal oils as well as adjusted medication. After that, the low -density lipoprotein level decreased significantly, xanthomas completely decreased, the risk of cardiovascular disease decreased and the patient’s quality increased.
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Source: Gazeta
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