PHILADELPHIA — In this exclusive video perspective from the American College of Gastroenterology Annual Meeting, Sean Rudnick, MD, from Wake Forest University, discusses hepatic porphyria and the need to raise awareness about the disease.
“We’re trying to highlight the need for thinking about this disease early on in patients with recurrent abdominal pain and suggestive symptoms,” he told Healio Gastroenterology and Liver Disease. “We want to make sure we’re screening the right patients and finding this rare disease in the populations it’s most likely to be found in.”
Rudnick and his group presented two posters at the meeting that explored diagnosis and management of hepatic porphyria.
Rudnick said the patients they are most commonly looking for are women of reproductive age who experience ongoing abdominal pain often associated with constipation.
“There may be some other objective findings,” he said. “Things like hyponatremia, inability to control pain with narcotic analgesia, also seizures ... when you start to see a patient coming in over and over again, fitting the right criteria, and potentially with some of these objective findings that might be suggestive, these are the people, perhaps, to screen.”
Disclosure: Rudnick reports that he is a consultant for Alnylam Pharmaceuticals.