Pathology EMQ template.

Name: King Lun Liu   

Theme: Lipoprotein Metabolism

OPTION LIST

A	Abeta-lipoproteinaemia	I	Familial hypertriglyceridaemia (Type I)
B	Alzheimer's Disease	J	Familial hypertriglyceridaemia (Type IV)
C	Atherosclerosis	K	Familial hypertriglyceridaemia (Type V)
D	Cerebrotendinous xanthomatosis	L	Hypoalpha-lipoproteinaemia
E	Familial combined hyperlipidaemia	M	Hypobeta-lipoproteinaemia
F	Familial dysbetalipoproteinaemia (type III)	N	Phytosterolaemia
G	Familial hepatic lipase deficiency	O	Polygenic hypercholesterolaemia
H	Familial hypercholesterolaemia (type II)	P	Tangier disease

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

1. Patient with this disease possesses the homozygous isoform of ApoE, ApoE2/E2.

2. A type of primary hypercholesterolaemia which involves the mutation of ATP-binding cassette (ABC) transporters G5 and G8

3. An autosomal dominant form of primary hypercholesterolaemia which can be caused by the gain of function mutation of proprotein convertase subtilisi/kexin type 9 (PCSK9) gene

4. Autosomal dominant mutation of the ApoB gene could lead to this condition

5. A condition resulted from dysregulated lipoprotein metabolism leading to cholesterol deposition in the arterial wall

ANSWERS

1. F

2. N

3. H

4. M

5. C