The professor named the causes of lysosomal acid lipase deficiency.

Lysosomal acid lipase deficiency (DLKL) is a rare hereditary disease associated with mutations in the LIPA gene, Tatiana, Head of the Department of Pediatric Gastroenterology, Hepatology and Diet Therapy at FITZ Nutrition and Biotechnology, Head of the Department of Gastroenterology and Dietetics at the N.I. Pirogov Russian National Research Medical University, Professor of the Russian Academy of Sciences, told Izvestia on April 19. Strokova. The expert explained how this disease can be detected and what it leads to.

According to her, with DLKL, lipids accumulate in many organs and tissues. There are two forms of the disease. The early infantile form is very severe and, without pathogenetic therapy, ends in death in 100% of cases: more than half of children die in the first six months of life.

"The adult form or disease of accumulation of cholesterol esters, despite its milder course, has a progressive character. At the same time, the disease can be asymptomatic for a long time and manifest itself in older, and in some patients in adulthood," the professor specified.

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The expert noted that it is possible to suspect DLKL when examining the abdomen or during ultrasound of the abdominal cavity: patients have an enlarged liver, and a third of them have spleen. In addition, some children may show signs of intestinal damage.

"Due to lipid metabolism disorders, patients with DLKL have a significant increase in cholesterol and an increase in "bad" lipids, which leads to early atherosclerotic vascular changes and significantly increases the risk of myocardial infarction and cerebral circulatory disorders at the working age," Strokova said.

In some patients, the diagnosis is made in connection with the detection of the disease in one of the children in the family. Therefore, an examination of all its members is required. The disease progresses slowly, with increasing hepatosplenomegaly and/or hepatosplenomegaly, changes in blood chemistry and lipidogram.

"Today, patients with DLKL can receive pathogenetic enzyme replacement therapy, which improves well-being, prevents disease progression, significantly improves quality of life and reduces the risk of disability. Twice a month, they are injected intravenously with an enzyme that is not present in the body," Strokova added.

Earlier, on March 28, Elena Ustinova, a general practitioner and nutritionist at the SM Clinic, told Izvestia about the dangerous consequences for the body when there is a lack of water. In particular, she warned that lack of water in the body can lead to blood clots, which, as a result, increases the likelihood of developing thrombosis, especially in adulthood. In addition, lack of fluid negatively affects the functioning of the brain.