Acute intermittent porphyria presenting with a subarachnoid haemorrhage

Abstract

A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria. This is the second case report of an acute hepatic porphyria presenting with a subarachnoid haemorrhage. Acute transient hypertension during the attack of porphyria caused the rupture of an intracranial arterial aneurysm.

Remarks on the acute intermittent porphyria

“…I read with interest the case report by van Heyningen and Simms describing a patient with subarachnoid haemorrhage (SAH) and ancillary acute intermittent porphyria (AIP). 1 However, for the following reasons I feel the diagnosis of AIP was not sufficiently substantiated. A five-fold increase in urinary porphobilinogen (PBG) concentration versus the reference range was reported, whereas typically increases of 50-fold are expected during an acute attack of AIP. 2 A five-fold increase could also fit with latent AIP, other acute porphyrias including porphyria variegata (VP) and hereditary porphyria (HC), or even non-specific causes such as liver disease; Urinary coproporphyrin and uroporphyrin concentrations were reported to be five- and 50-fold increased, respectively, a pattern more typical of porphyria cutanea tarda than AIP; 3 PBG deaminase activity in washed erythrocytes was reported to be within the reference range, which is rare in AIP, indicating a non-erythroid form.…”