Pathology EMQ template.

Name:                 

Candidate number:

Theme: Porphyrias

 

OPTION LIST

 

A	Abdominal Ultrasound	I	Urinary ALA
B	DNA mutation analysis	J	Urinary ALA & porphobilinogen
C	Faecal porphyrins	K	Urinary porphobilinogen
D	Hydroxymethylbilane synthase (HMBS) activity	L	Urine porphyrin profile
E	Liver Biopsy	M	Uroporphyrinogen decarboxylase activity
F	Liver porphyrin profile	N
G	Plasma ALA	O
H	Plasma porphyrin profile	P

 

 

For each scenario below, choose the most appropriate from the list above. Each option may be used once, more than once or not at all.

 

1. A 32 yr old lady is admitted to hospital with intermittent abdominal pain, vomiting and fever. A blood count shows a neutrophil leucocytosis.  She takes the oral contraceptive pill. What is the most appropriate test?

 

2.  A 55 year old man with liver cirrhosis comes in with depigmentation on the back of his hands and crusty vesicles on his face. What is the most appropriate test?

 

3. A 45 year old woman with intermittent acute porphyria has a positive Watson – Schwartz test. This indicates the presence of:

 

4. A 20yr old girl presents with reduced cognitive function, mild abdominal pain and vomiting. Her urinary ALA & PBG are increased. As well as interpreting her faecal and plasma porphyrin levels, what should you analyse?             

 

5. The same same girl comes in a year later. She has gone back on the oral contraceptive pill, which she is fixed on taking. She is worried that it will trigger one of these attacks a 3rd time. Her urinary ALA & PBG are normal this time. What is the next most appropriate test?

 

 

 

ANSWERS

1. J

2. H,L

3. K

4. D

5. C