Familial Dyslipidemias

Question 1

Inheritance of Type I Hyper-chylomicronemia

Answer 1

AR

Question 2

Inheritance of Type IIa Familial Hyper-cholesterolemia

Answer 2

AD

Question 3

Inheritance of Type IV Hyper-triglyceridemia

Answer 3

AD

Question 4

Deficiency in Type I Hyper-chylomicronemia

Answer 4

Lipoprotein Lipase or Apo C-II

Question 5

Deficiency in Type IIa Familial Hyper-cholesterolemia

Answer 5

Absent/Defective LDL Receptors

Question 6

Deficiency in Type IV Hyper-triglyceridemia

Answer 6

Hepatic overproduction of VLDL

Question 7

Complications of Type I (high Chylomicrons, TG, cholesterol)?

Answer 7

Pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no risk for atherosclerosis). Creamy layer in supernatant.

Question 8

Complications of Type IIa (high LDL, cholesterol)?

Answer 8

Accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, and corneal arcus.

Question 9

Complications of Type IV (high VLDL, TG)?

Answer 9

Hypertriglyceridemia (> 1000 mg/dL) can cause acute pancreatitis.