Intermittently We Get Things Right: A Case of Porphyria After Esophagogastrectomy

Abstract

Acute porphyrias are rare inherited metabolic disorders of heme production, intermittently presenting with abdominal pain and neurovisceral symptoms. We discuss the case of a 58-year-old African American female with a history of gastroparesis and esophageal adenocarcinoma, who presented with intractable abdominal pain, nausea and vomiting. Her symptoms were initially attributed to her previously established gastrointestinal diagnoses; however, an in-depth workup for gastric, hepatic, biliary and vascular causes was negative. Ultimately, a urine porphyria panel revealed elevated porphyrins and the patient was treated with a high carbohydrate diet and hemin infusion, with subsequent normalization of her urine porphyrins and improvement of her symptoms. Acute Porphyrias are exceedingly rare. However, the occurrence of acute porphyria after gastric surgery has been previously reported and attributed to diminished carbohydrate intake. Similarly, this patient's esophagogastrectomy reduced her caloric carbohydrate intake, perhaps resulting in the accumulation of heme precursors and the onset of a clinical crisis. The patient's dramatic normalization of urine porphyrins following hemin treatment underscores the validity of her diagnosis. Thus, we propose that acute porphyria should be considered in patients with recurrent abdominal pain, nausea and vomiting and a negative work-up for another intra-abdominal pathology. Porphyrias should also be considered in patients with persistent pain after abdominal surgery and those with reduced caloric intake. Early diagnosis of porphyria is key to effective treatment with hemin. Simple spot urine tests for urine porphinobilinogen, although not performed in this case due to low suspicion, can easily rule out the diagnosis, and should be the first step in the workup of such patients.Table 1: Urine porphyria panel results prior to hemin treatment and after hemin treatment. All values were initially elevated and were within normal levels after treatment. Urine ALA remained elevated 10 days after admission.