Hypolipoproteinemia

Question 1

aka Bassen-Kornzweig Syndrome

Answer 1

abetalipoproteinemia

Question 2

• autosomal recessive disorder
• nonexistent apo B48 and apo B100

Answer 2

abetalipoproteinemia

Question 3

abetalipoproteinemia lab findings

TC - ___
TAG - ___

Answer 3

TC - very low
TAG - nearly undetectable

Question 4

• autosomal dominant disorder
• nonsense or missense mutations in apoB gene

Answer 4

Hypobetalipoproteinemia

Question 5

Hypobetalipoproteinemia lab findings

TC - ____
TAG - ____

Answer 5

TC - low
TAG - normal to low

Question 6

• rare autosomal recessive disorder
• mutation in ABCA1 gene

Answer 6

Tangier’s Disease

Question 7

Tangier’s disease lab findings

HDL - _____

Answer 7

low to undetectable

Question 8

common autosomal dominant disorder

Answer 8

hypoalphalipoproteinemia

Question 9

hypoalphalipoproteinemia HDL-C level

Men: ____mg/dL
Women: ____mg/dL

Answer 9

Men: <30 mg/dL
Women: <40 mg/dL