"A Common Genetic Cause of High LDL Cholesterol" (Familial Combined Hyperlipidemia)

The video tutorial covers familial combined hyperlipidemia (FCCH), a hereditary disorder causing increased LDL cholesterol and triglyceride levels. It discusses the genetic basis, prevalence, and associated conditions like diabetes and liver disease. The pathophysiology involves mutations affecting lipid metabolism. Clinical features include xanthelasma and corneal arcus. Diagnosis requires family history and specific lab findings. Treatment focuses on reducing LDL levels using high-dose statins. The tutorial emphasizes the importance of early intervention to prevent coronary heart disease.

What is the inheritance pattern of familial combined hyperlipidemia?

• Mitochondrial

• Autosomal dominant

• X-linked recessive

• Autosomal recessive

Which population is more commonly affected by familial combined hyperlipidemia?

• Caucasian

• African

• Hispanic

• Asian

What is a key factor in the pathophysiology of FCCH?

• Imbalance in lipid metabolism

• Decreased production of APO B100

• Excessive HDL production

• Increased breakdown of lipids

Which enzyme's activity is often decreased in FCCH?

• Cholesterol esterase

• Lecithin-cholesterol acyltransferase

• HMG-CoA reductase

• Lipoprotein lipase

What is a common physical manifestation of FCCH?

• Lipomas

• Acanthosis nigricans

• Xanthelasma

• Tendon xanthomas

Which laboratory finding is NOT typical in FCCH?

• Increased LDL cholesterol

• Increased triglycerides

• Presence of tendon xanthomas

• Decreased HDL cholesterol

What is the primary treatment goal for managing FCCH?

• Reduce LDL levels below 100 mg/dL

• Increase APO B100 production

• Eliminate triglycerides

• Increase HDL levels