Acute hepatic porphyrias are rare metabolic disorders that often present with recurrent neurovisceral symptoms and are frequently misdiagnosed. Definitive diagnosis relies on biochemical and genetic testing, which may be unavailable in resource-limited settings. We report a 36-year-old woman with recurrent episodes of severe colicky abdominal pain associated with vomiting and bowel disturbances, with minimal abdominal findings and repeatedly normal routine investigations. During an acute episode, urinary screening demonstrated a positive Hoesch test for porphobilinogen (PBG). Spectrophotometric analysis of urine total porphyrins revealed a Soret peak at approximately 405 nm, and the total urine porphyrin concentration was elevated at 349.635 nmol/L (reference: <300 nmol/L). Alternative causes of elevated urinary porphyrins were excluded clinically and biochemically. Due to the unavailability of intravenous hemin, the acute episode was managed with analgesia, supportive care, and carbohydrate, leading to symptom resolution. The patient was counselled on the avoidance of precipitating factors and long-term surveillance. This case illustrates the diagnostic value of clinical suspicion supported by basic biochemical testing in identifying probable acute hepatic porphyria in a resource-limited setting.
Mihiran Thanigasalan (Wed,) studied this question.