Linkou Chang Gung Hospital warns of rare metabolic disorder AIP

Medical experts at Linkou Chang Gung Memorial Hospital are highlighting the importance of identifying Acute Intermittent Porphyria (AIP), a rare genetic metabolic disorder that is often misdiagnosed as gastrointestinal illness. AIP can cause severe, recurring abdominal pain that may not be detected by standard gastroscopy or CT scans.

Dr. Kuo Hung-Chou, Deputy Director of the Neurology Department, notes that while the overall incidence of hereditary porphyria is approximately 1 in 300,000, many cases may go undiagnosed. Key symptoms to watch for include intense abdominal pain accompanied by neurological issues, autonomic nervous system abnormalities, low sodium levels, nausea, vomiting, palpitations, or changes in consciousness. A significant clue is urine that turns a reddish-brown color when exposed to light due to elevated porphobilinogen (PBG).

Triggers for acute attacks include rapid weight loss, dieting, smoking, alcohol consumption, hormonal changes during menstruation, and certain medications. Treatment typically involves hospitalization for heme infusion. The hospital has established an AIP center to integrate diagnosis, genetic counseling, and long-term management to reduce the risk of severe neurological complications.