Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

• Main Authors: M.V. Ezhov, E.Yu. Zakharova, A.A. Avramenko, A.S. Alieva, I.N. Zakharova, I.V. Leont'eva, S.I. Malyavskaya, I.M. Osmanov, D.I. Sadykova, M.L. Stolina, T.V. Strokova
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: LCC «Medicine-Inform» 2021
• Subjects: Pediatrics; RJ1-570; Gynecology and obstetrics; RG1-991; Pacific; Arkhangelsk
• Online Access: https://doaj.org/article/77322076b55740aa80fa82434938b9ed

M.V. Ezhov 1 , E.Yu. Zakharova 2 , A.A. Avramenko 3,4 , A.S. Alieva 5 , I.N. Zakharova 6 , I.V. Leont'eva 7 , S.I. Malyavskaya 8 , I.M. Osmanov 9 , D.I. Sadykova 10 , M.L. Stolina 11 , T.V. Strokova 7,12 1 National Medical Research Center of Cardiology, Moscow, Russian Federation 2 Research Center for Medical Genetics, Moscow, Russian Federation 3 V.P. Polyakov Samara Regional Clinical Cardiological Dispensary, Samara, Russian Federation 4 Samara State Medical University, Samara, Russian Federation 5 V.A. Almazov National Medical Research Center, St. Petersburg, Russian Federation 6 Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation 7 Pirogov Russian National Research Medical University, Moscow, Russian Federation 8 North State Medical University, Arkhangelsk, Russian Federation 9 Z.A. Bashlyaeva Children’s City Clinical Hospital, Moscow, Russian Federation 10 Kazan State Medical University, Kazan, Russian Federation 11 Pacific State Medical University, Vladivostok, Russian Federation 12 Federal Research Center for Nutrition and Biotechnology, Moscow, Russian Federation Lysosomal acid lipase deficiency (LAL-D) is a monogenic progressive life-threatening condition characterized by abnormal lipid profiles in most patients of all ages. Timely diagnosis and early pathogenetically-oriented treatment (available in Russia) are crucial for children and young adults since abnormal serum levels of lipids are associated with the onset and severity of atherosclerosis in adolescence, young and middle age. The prognosis of LAL-D without pathogenetically oriented treatment is poor. Data on cholesteryl ester storage disease (a variant of LAL-D in children and adults), early atherosclerosis, coronary heart disease, aortic calcification, etc., are available. However, early diagnosis of LAL-D is difficult due to long-term latent course and nonspecific clinical signs. In December 2020, a panel of leading Russian experts in the diagnosis and treatment of orphan diseases and lipidologists was ...