Pathology EMQ template.

Name:

Candidate number:

Theme: Porphyria

 

OPTION LIST

 

A	Acute Intermittent Porphyria	I
B	ALA dehydratase deficiency	J
C	Congenital erythropoietic porphyria	K
D	Erythropoietic protoporphyria	L
E	Hereditary Coporphyria	M
F	PBG dehydratase deficiency	N
G	Porphyria cutanea tarda	O
H	Variegate Porphyria	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. Type of porphyria characterised by acute attacks of neurovisceral symptoms or chronic neuropathy. Autosomal recessive mode of inheritance.

 

 

2. Acute prophyria, with both neurovisceral and cutaneaous manifestations. It is inherited in autosomal dominant fashion and is due to protoporphyrinogen oxidase deficiency.

 

 

3. Non-acute prophyria characterised by skin fragility. It can be inherited in autosomal dominant fashion or result from sporadic mutation.

 

 

4. Porphyria with cutaneous manifestations only, inherited in autosomal dominant fashion. It is a result of ferrochelatase deficiency.

 

 

5. Acute porphyria with neurovisceral manifestations only. Inherited in autosomal dominant fashion.

 

 

 

ANSWERS

1. B

2. H

3. G

4. D

5. A