Title: Acute hepatic porphyria attack following mini gastric bypass surgery
Abstract: Acute Intermittent Porphyria, (AIP) is a rare disease caused by Hydroxymethylbilane Synthase (HMBS) deficiency. It is characterized by acute neurovisceral attacks, in which excessive heme production is induced following exposure to a trigger. One of the suggested triggers is low carbohydrate intake. We report a 32-year-old female who suffered from severe abdominal pain, nausea and general weakness following a bariatric mini gastric bypass surgery. There was a positive family history of AIP, but the patient had a normal Porphobilinogen urine test as a child, therefore diagnosis was not made. During current symptoms, urinary porphobilinogen was highly increased and AIP was diagnosed. Treatment with IV dextrose and Heme Arginate alleviated the patient’s symptoms. After discharge, Family genetic testing revealed a novel pathogenic mutation in the HMBS gene. Had genetic testing been performed earlier, diagnosis of AIP could have been established earlier. Early diagnosis may prevent attacks and reduce their severity. Since a bariatric surgery leads to low intake of carbohydrates, it might be an indirect trigger of an acute porphyria attack. Keywords: porphyria; bariatric surgery; porphobilinogen.