porphyria

Question 1

what is acute intermittent porphyria

Answer 1

rare autosomal dominant condition caused by a defect in the porphobilinogen deaminase
results in toxic accumulation of delta aminolaevulinic acid and porphobilinogen

Question 2

presentation of acute intermittent porphyria

Answer 2

abdominal: pain, vomiting
neurological: motor neuropathy
psychiatric: depression
hypertension and tachycardia

Question 3

diagnosis of acute intermittent porphyria

Answer 3

urine turns deep red on standing
raised urinary porphobilinogen
assay of red cells for porphobilinogen deaminase
raised serum levels of delta aminolaevulinic acid and porphobilinogen

Question 4

management of acute intermittent porphyria

Answer 4

avoiding triggers
acute attacks
IV haematin/haem arginate
IV glucose should be used if haematin/haem arginate is not immediately available