Клинические проявления и эффективность гиполипидемической терапии у пациентки с выраженной гипертриглицеридемией и новыми вероятно-патогенными вариантами в гене LPL:p.[(Asp202Asn)];[(Tyr233Cys)]

A. N. Meshkov; A. V. Kiseleva; G. A. Konovalov; V. L. Averkiev; S. A. Smetnev; E. A. Sotnikova; A. A. Zharikova; O. M. Drapkina

doi:10.34687/2219-8202.JAD.2022.04.0007

Authors

A. N. Meshkov National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation https://orcid.org/0000-0001-5989-6233
A. V. Kiseleva National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation
G. A. Konovalov «CDC Medsi in Belorusskaya»
V. L. Averkiev «CDC Medsi in Belorusskaya»
S. A. Smetnev National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation
E. A. Sotnikova National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation
A. A. Zharikova National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation
O. M. Drapkina National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of the Russian Federation

DOI:

https://doi.org/10.34687/2219-8202.JAD.2022.04.0007

Keywords:

hypertriglyceridemia, LPL, fenofibrate, ezetimibe, diet

Abstract

We present a clinical case of the female patient with very high levels of triglycerides (history up to 26.28 mmol/l) and previously undescribed likely pathogenic variants of the LPL:p.[(Asp202Asn)];[(Tyr233Cys)]. When patients were on a strict lipid-lowering diet, with restriction of vegetable and animal fats, taking fenofibrate 145 mg/day and ezetimibe 10 mg/day, the triglyceride level was reduced from 16.27 mmol/l to 2.04-2.68 mmol/l.

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