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.

What is familial hypercholesterolemia and how does it affect cholesterol levels?

Explain the difference between heterozygous and homozygous individuals in the context of familial hypercholesterolemia.

What are the four different types of mutations in the LDL receptor gene that can lead to familial hypercholesterolemia?

Describe the role of PCSK 9 in familial hypercholesterolemia.

What are some common signs and symptoms of familial hypercholesterolemia?

What is the significance of tendon xanthomas in diagnosing familial hypercholesterolemia?

Discuss the impact of familial hypercholesterolemia on cardiovascular health.

How is familial hypercholesterolemia diagnosed in homozygous individuals?

What genetic testing methods are used to confirm a diagnosis of familial hypercholesterolemia?

What treatment options are available for individuals with familial hypercholesterolemia?