Pathology EMQ template.

Name: Mark Rezk

Theme: Porphyrias

OPTION LIST

A	Acute intermittent porphyria	I	Variegate porphyria
B	ALA dehydratase deficiency	J	X-linked sideroblastic anemia
C	Erythropoietic protoporphyria	K
D	Familial porphyria cutanea tarda	L
E	Hereditary coproporphyria	M
F	Pseudoporphyria	N
G	Sporadic porphyria cutanea tarda	O
H	Transient erythroporphyria of infancy	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 13 year old boy presents in A&E with blisters on his face. The mother tells you that this has occurred before after exposure to sunlight. She had also given him ibuprofen to no avail. Tests show no abnormalities in urine and serum porphyrin.

2. A 35 year old gentlemen with hyperpigmentation says that after exposure to sunlight, he develops blistering on the face similar to his father. LFT’s reveal raised AST and ALT. The doctor says that this is the most common porphyria subtype.

3. A 32 year old banker presents to you with severe abdominal pain, nausea, vomiting and paranoia after celebrating his pay rise the night before with his colleagues. Urine tests reveal raised porphobilinogen (PBG) and aminolevulinic acid (ALA).

4. An 11 year old boy presents with extreme sensitivity to light. You notice that there is blistering of the face and the boy is itching it. He reports pain 10/10. Plasma tests reveal high porphyrin levels.

5. A 23 year old student presents with both abdominal pain and blistering of the skin. Upon questioning, he reports that he has recently changed to a high protein diet to get “big” at the gym. He does not know his biological parents as he is adopted.

ANSWERS

1. F

2. D

3. A

4. C

5. E