Pathology EMQ template

Name: Soudeh Mashayekhi

Theme: Obesity and Cardiovascular update

 

OPTION LIST

 

A	Abetaliproteinaemia	I	Phytosterolaemia
B	Familial dysbetalipoproteinaemia	J	Syndrome X
C	Hypercholesterolaemia	K	Tangier disease
D	Hypertriglyceridaemia	L
E	Hypolipidaemia(dominant)	M
F	Hypolipidaemia(recessive)	N
G	Hypothyroidism	O
H	Mixed hyperlipidaemia	P

 

 

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. A 23 year old medical student is noted by his colleagues to have tendon xanthomas and some strange deposits in his eye. Further investigations reveal PSK9 deficiency, which the consultant explains controls LDL degradation.

 

 

2. Type I of this condition is due to apoC II deficiency

 

 

3. HDL deficiency caused by ABC A1 mutation, causing a reduction in HDL. Also known as hypoalphalipoproteinemia

 

 

4. 40 year old female presents with weight gain, constipation and tiredness. She is extremely distressed as she describes trying all the celebrity diets without success.

 

 

5. A one year old presents with feeding difficulties, lethargy, hypoglycemia, hypotonia, and liver problems. The consultant informs the parents that the infant’s disorder is caused by MTP deficiency

 

 

 

ANSWERS

1. C

2. D

3. K

4. G

5. F