Familial Hypercholesterolemia | Genetics, Pathophysiology, Symptoms and Treatment

The video provides an in-depth look at familial hypercholesterolemia (FH), a genetic disorder characterized by high LDL cholesterol levels. It explains the genetic basis, including mutations in the LDL receptor, PCSK9, and APOB100 genes, and their impact on cholesterol metabolism. The video covers the clinical signs, such as xanthomas and atherosclerosis, and the diagnostic criteria for both heterozygous and homozygous forms. Treatment options, including statins and PCSK9 inhibitors, are discussed to manage cholesterol levels and reduce cardiovascular risks.

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