Keywords
Atherosclerosis
Genetics
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Abstract
Objective: To analyze the characteristics of Homozygous Familial Hypercholesterolemia (HoFH). Bibliographic review: The most common cause of severe hypercholesterolemia is homozygous familial hypercholesterolemia, affecting 1 in 300,000 people. Typically, HoFH is codominantly inherited and is caused by biallelic mutations in the gene encoding the low-density lipoprotein receptor (LDLR), which represents the main pathway for removing LDL particles from the blood. The typical lipid profile of HoFH is characterized by elevated LDL-C (up to 300 mg/dL) with subsequently increased total cholesterol levels. Final considerations: HoFH is a uniquely challenging disease that brings with it the multiple pressures of urgency to treat, access to treatment, and genetic counseling. Treatment primarily requires lifestyle changes with diet and physical activity. Therapy with statins and proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors are only modestly effective if there is residual LDL receptor activity. Another commonly applied therapy is lipoprotein apheresis, however it is an expensive therapy, little available and which, due to its weekly or biweekly dosage, has implications for the patient's quality of life.
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