Late diagnosis of a severe attack of acute intermittent porphyria (AIP)--diagnostic dilemmas

The article presents diagnostic problems concerning the case of 54-year old woman with a delayed diagnosis of a severe attack of acute intermittent porphyria (AIP), which on admission manifested mainly as flaccid quadriplegia. The signs of neurological deficit were accompanied by changes in electrocardiographic recording that suggested acute myocardial ischaemia without apparent chest pain. Based upon a detailed history and identification of potential factors that might have triggered the attack the suspicion of acute hepatic porphyria was raised. The suspicion was confirmed by biochemical testing in the Institute of Hematology and Transfusiology in Warsaw. The treatment with glucose was administered, drugs contraindicated in porphyria were excluded, and early rehabilitation programme was instituted, which led to a marked improvement of general status and resolution of quadriplegia after 16 weeks. Parallel to the improvement of neurological status and a decrease in urinary excretion of heme precursors the normalisation of ECG changes was observed. The authors point out that differential diagnosis of abdominal pain with concomitant hyponatraemia should include an attack of acute porphyria since early administration of proper management prevents the development of life-threatening neurological signs accompanying the severe attack. The diagnosis of an attack of acute porphyria in the phase of predominant neurological signs, in the absence of abdominal pain, may be difficult and always warrants, apart from anamnestic data, the confirmation with appropriate biochemical testing.