Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report

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: