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2026№7

Clinical observation of a patient with malignant progression of homozygous familial hypercholesterolemia

DOI
https://dx.doi.org/10.18565/therapy.2026.7.97-102

K.R.Mikava, Yu.Yu.Varlamova, V.N. Larina

1) N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russian Federation; 2) Diagnostic Clinical Center No. 1, Moscow, Russian Federation
Abstract. Familial hypercholesterolemia (FH) is a genetic disorder primarily inherited in an autosomal dominant manner. It is characterized by significantly elevated levels of low-density lipoprotein cholesterol, which leads to the early onset and rapid progression of atherosclerosis, often beginning at a young age. The prevalence of heterozygous FH is approximately 1 in 250 individuals worldwide, while the homozygous form is much rarer, affecting only 1 in 300,000 to 1 million individuals. Without treatment, patients with homozygous FH typically develop atherosclerosis before the age of 20 and life expectancy rarely exceeds 30 years. The clinical case of a 40-year-old female patient with FH presented in this article illustrates why primary care physicians to maintain a high level of awareness and perform timely lipid profile screenings to enable early prevention of cardiovascular events. Expanding access to novel therapeutic agents and extracorporeal treatment methods is also essential, particularly for patients with homozygous FH.

Keywords

homozygous familial hypercholesterolemia
low density lipoprotein apheresis
lomitapide
Full text (in Russian)

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About the Authors

Kristina R. Mikava, MD, general practitioner, assistant at the Department of outpatient therapy of the Institute of Clinical Medicine, N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russian Federation.
ORCID: https://orcid.org/0000-0002-0248-3814
Yulia Yu. Varlamova, MD, PhD (Medicine), cardiologist, head of the Department of cardiology, Diagnostic Clinical Center No. 1, Moscow, Russian Federation.
ORCID: https://orcid.org/0000-0003-2925-3450
Vera N. Larina, MD, Dr. Sci. (Medicine), professor, head of the Department of outpatient therapy of the Institute of Clinical Medicine, N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russian Federation.
Е-mail: larinav@mail.ru
ORCID: https://orcid.org/0000-0001-7825-5597

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