09.16.2013 - Cholesterol and Lipoprotein Metabolism

Question 1

Answer 1

Tendon xanthoma

Question 1

Answer 1

Xanthelasma - not specific for familial hypercholesterolemia

Question 2

Answer 2

Palmar xanthoma associated with familial dysbetalipoproteinemia type III

Question 3

What are the three types of mutations that lead to Type IIa phenotypes?

Answer 3

1. Familial hypercholesterolemia. 2. Familial defect in the APOB100 receptor binding region for LDL 3. Autosomal dominant hypercholesterolemia - Pcsk9 mutation

Question 4

What is PCSK9?

Answer 4

It binds LDLR, targets it for degradation. Autosomal dominant mutations in this gene give you autosomal dominant hypercholesterolemia.

Question 4

Seven disorders of lipid metabolism that we covered in class not related to HDL.

Answer 4

1. Familial chylomicronemia Type I
2. Familial dysbetalipoproteinemia Type III
3. Familial hypercholesterolemia Type IIa
4. Familial defect APOB100 Receptor Type IIa
5. Autosomal dominant hypercholesterolemia Type IIa
6. Familial hypertriglyceridemia IV or V
7. Familial combined hyperlipidemia (FCHL) IIb

Question 4

Three disorders of HDL metabolism.

Answer 4

1. ApoA1 mutation
2. Tangier disease (ABCA1) - tonsils loaded with cholesterol
3. LCAT Deficiency - eyes

Question 6

Answer 6

LCAT deficiency

Question 8

Answer 8

Eruptive Xanthomas associated with familial chylomicronemia type I

Question 10

Answer 10

ABCA1 mutation - Tangier’s disease

Question 11

Answer 11

Tuberous xanthoma associated with familial dysbetalipoproteinemia Type III

Question 12

Answer 12

Tendon xanthoma - specific for familial hypercholesterolemia

Question 13

Answer 13

Homozygous familial hypercholesterolemia cutaneous xanthoma

Question 14

Answer 14

Question 15

Answer 15

Homozygous familial hypercholesterolemia cutaneous xanthoma again

Question 16

What is reverse cholesterol transport?

Answer 16

Describes what HDL does, transporting cholesterol out of macrophages and back to the liver via first ABCA1 and then LCAT