Pathology EMQ template.

Name: Annalan Mathew Dwight Navaratnam

Theme: Porphyria

 

OPTION LIST

 

A	Acute intermittent porphyria	I	Porphyria cutanea tarda
B	Auto-immune haemolytic anaemia	J	Variegate porphyria
C	Beta-thalasaemia	K
D	Congenital erythropoietic porphyria	L
E	Erythropoietic porphyria	M
F	Gilbert’s syndrome	N
G	Hereditary coproporphyria	O
H	Hereditary spherocytosis	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 24 year old medical student presents with episodes of recurrent severe abdominal pain. On examination she is found to have a peripheral sensory polyneuropathy and hypertension. Investigations confirm a defect of porphobilinogen synthase.

 

2. A 40 year old gentleman attends his GP appointment to complain of port wine coloured urine and ‘marks’ on his skin. On inspection he has scleroderma like plaques and thickened skin with blisters, scars and milia. Tests show a single mutation at the UROD (uroporphyrinogen decarboxylase) locus.

 

3. A young lady presents with complaints of recurrent episodes of acute bullous eruptions of the skin, especially in the summer months. A defect of protoporphyrinogen oxidase is present.

 

 

4. A patient complains of recurrent skin eruptons on light exposed areas that have led to scarring. The nails are also affected and there is a past history of episodic confusion and sensory symptoms. There is a defect in coproporphyrinogen oxidase

 

 

5. A patient is noted to have a bilirubin raised at twice the upper limit of normal during an upper respiratory tract infection. All the other liver function tests are within normal limits. He tells you that other doctors have told him about this in the past and that he should not worry about it.

 

 

 

 

 

ANSWERS

1. A

2. I

3. J

4. G

5. F