What is the common presentation of Acute intermittent porphyria?

abdominal, neurological and psychiatric symptoms:

• abdominal: abdominal pain, vomiting
• neurological: motor neuropathy
• psychiatric: e.g. depression
• hypertension and tachycardia common

What is the inheritance pattern of Acute intermittent porphyria?

autosomal dominant

What patient groups is Acute intermittent porphyria most common?

• 20-40-year-olds
• more common in females (5:1)

How is the diagnosis of Acute intermittent porphyria made?

• classically urine turns deep red on standing
• raised urinary porphobilinogen (elevated between attacks and to a greater extent during acute attacks)
• assay of red cells for porphobilinogen deaminase
• raised serum levels of delta aminolaevulinic acid and porphobilinogen

What is the management of an acute attack of Acute intermittent porphyria?

• IV haematin/haem arginate
• IV glucose should be used if haematin/haem arginate is not immediately available

What is the pathophysiology of Acute intermittent porphyria?

A defect in porphobilinogen deaminase, an enzyme involved in the biosynthesis of haem. The results in the toxic accumulation of delta aminolaevulinic acid and porphobilinogen