Familial Dyslipidemias

Question 1

Increased chlyomicrons & TG (+cholesterol)

Answer 1

Familial hyperchylomicronemia (I)

Question 2

Familial hyperchylomicronemia (I) - Pathophysiology

Answer 2

LPL deficiency or altered ApoCII

Autosomal recessive

Question 3

Pancreatitis, Hepatospleenomegaly, eruptive/pruritic xanthomas

Answer 3

Familial hyperchylomicronemia (I)

Question 4

No increased risk for athersclerosis

Answer 4

Familial hyperchylomicronemia

Question 5

Increased LDL, cholesterol

Answer 5

Familial Hypercholesterolemia (IIa)

Question 6

Familial Hypercholesterolemia (IIa) - Pathophysiology

Answer 6

Absent or decreased LDL receptors
Autosomal dominant
Homozygotes > Heterozygotes

Question 7

Accelerated atherosclerosis, tendon xanthomas, and corneal arcus (white, gray, or blue opaque ring in the corneal margin )

Answer 7

Familial Hypercholesterolemia (IIa)

Question 8

Increased VLDL, TG

Answer 8

Familial Hypertriglyceridemia (IV)

Question 9

Familial Hypertriglyceridemia (IV) - pathophysiology

Answer 9

Hepatic overproduction of VLDL

Autosomal dominant

Question 10

Causes pancreatitis

Answer 10

Familial Hypertriglyceridemia (IV)

Question 11

Autosomal recessive mutation in microsomal triglyceride transfer protein (MTP) gene

Answer 11

Abetalipoproteinemia

Question 12

Low serum TG, cholesterol

Answer 12

Abetalipoproteinemia

Question 13

Failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness

Answer 13

Abetalipoproteinemia