Acute intermittent porphyria

Abstract

17-year-old female, came with complaints of abdominal pain, vomitings, hypertension. Three days before admission she developed severe abdominal pain, backache and generalised body pains with extreme weakness. These symptoms worsened over 3 days, accompanied by nausea, vomiting, and emotional instability [1]. Her medical history is notable for 6 similar attacks with abdominal pain and vomiting. She took no medications. On admission she was lethargic but oriented. On day 4 of hospital stay patient developed generalised tonic clonic seizure, hyponatremia, fall in haemoglobin, and during this episode there was pinkish discoloration of urine. With suspicion of porphyria, urine was sent for porphobilins estimation, which was positive. 24 hour urine for porphoblilinogen, was elevated and there were decreased levels of PBG-deaminase activity. Patient was treated with high carbohydrate intake and correction of electrolyte disturbances. Haematin and heme arginate were not used, due to the difficulty to acquire the medication. Keywords: Acute intermittent porphyria; autosomal dominant metabolic disorder; porphobilinogen deaminase enzyme