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 type of genetic disorder is familial hypercholesterolemia?

• Autosomal recessive

• X-linked recessive

• Autosomal dominant

• Mitochondrial

Which region has the highest prevalence of heterozygous familial hypercholesterolemia?

• Asia

• Europe

• South Africa

• United States

What is the most common mutation leading to familial hypercholesterolemia?

• Mutation in LDL receptor gene

• Mutation in APOB100

• Mutation in HDL receptor gene

• Mutation in PCSK9

Which class of mutation involves the inability of LDL to bind to its receptor?

• Class 1

• Class 2

• Class 3

• Class 4

What is a tendon xanthoma?

• A collection of cholesterol around the eyelids

• A ring around the iris of the eye

• A collection of fatty tissue lining tendons

• A narrowing of the artery lumen

Which symptom is particularly severe in homozygous individuals with FH?

• Premature atherosclerosis

• Xanthelasma

• Corneal arcus

• Aortic stenosis

What is a key diagnostic criterion for homozygous FH?

• LDL cholesterol levels greater than 190 mg/dL

• Presence of tendon xanthoma before age 10

• Family history of coronary artery disease

• Total cholesterol levels less than 300 mg/dL

Which method is considered the most definitive for diagnosing FH?

• Genetic testing

• Clinical presentation

• Family history

• Cholesterol level measurement

What is the primary goal of treatment for familial hypercholesterolemia?

• Increase total cholesterol levels

• Lower LDL levels

• Increase HDL levels

• Reduce triglyceride levels

Which medication is typically used as an add-on to statin therapy in FH?

• Beta-blockers

• PCSK9 inhibitors

• Calcium channel blockers

• MTP inhibitors