Background

Acute hepatic porphyria (AHP) is a rare inherited metabolic disease characterized by acute neurovisceral attacks. While most disease carriers remain asymptomatic, some develop recurrent acute attacks that can be triggered by surgical procedures, certain medications, metabolic disturbances, and negative energy balance, all of which are components of bariatric surgery. Furthermore, the features of acute porphyria attacks mimic surgical complications and as a result, an acute attack in the postoperative period may not be recognized, leading to devastating consequences.

Methods

A 62-year-old woman with idiopathic polyneuropathy and obesity presented with recurrent episodes of severe abdominal pain, malaise, and dark urine beginning 2 weeks after she underwent Roux-en-Y gastric bypass. A cause was not established despite comprehensive work-up. After 2 months, patient was bedbound with areflexia, tetraparesis, agitation, hallucinations, and hyponatremia. A qualitative urinary porphobilinogen test was positive, consistent with AHP. Treatment with hematin and givosiran was initiated. The patient was discharged to a rehabilitation facility 3 months after surgery. Molecular analysis revealed a PPOX variant, confirming diagnosis of Variegate Porphyria.

Conclusions

This case illustrates the importance of including AHP in differential diagnoses in patients who present with postoperative symptoms of unclear etiology, such as abdominal pain, dark urine, neuropathy, and/or hyponatremia. Missed or delayed diagnosis of AHP attacks can lead to significant complications, including death as well as long-term sequelae. Bariatric surgery needs to be considered carefully in patients with known personal or family history of AHP and conservative weight loss approaches in a supervised setting may be preferred.