Pathology EMQ template.

Name:

Candidate number:

Theme: Porphyrias

 

OPTION LIST

 

A	Acute intermittent porphyria	I	Uroporphyrinogen III synthase
B	ALA dehydratase	J	Variegate porphyria
C	Hereditary coproporphyria	K
D	Porphobilinogen deaminase	L
E	Porphyria cutanea tarda	M
F	Protoporphyrinogen oxidase	N
G	Pseudoporphyria	O
H	Uroporphyrinogen decarboxylase	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 30 year old man presents with vesicles on his face and back of hands, which are exacerbated by sun exposure. His father also suffers from the same condition.

 

 

2. A 16 year old girl presents to A&E with severe abdominal pain and vomiting. She has recently started taking the oral contraceptive pill. On examination she is confused, tachycardic and hypertensive.

 

 

3. A 50 year old man on maintenance haemodialysis for chronic renal failure presents with blisters and scarring on his face, hands, forearms and feet. His urine, plasma and faecal porphyrin levels are all normal.

 

 

4. A 40 year old South African woman presents to A&E with severe abdominal pain, seizures and weakness in her lower limbs. She has experienced similar episodes in the past. On examination crusts and blisters are visible on her hands and face.

 

 

5. The most common porphyria worldwide is due to a deficiency in this enzyme.

 

 

 

ANSWERS

1. E

2. A

3. G

4. J

5. H