Mercedes Martinez, MD: Diagnosing Autoimmune Hepatitis

Autoimmune hepatitis is estimated to only affect approximately 2 - 10 in every 100,000—a particularly rare disease that can be managed with timely pharmaceutical intervention.

But it is the very rarity of the disease—and the importance of early treatment—that which puts significant stakes on diagnosing it expeditiously and effectively in impacted children.

In the first segment of an interview with HCPLive during the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) 2023 Annual Meeting in San Diego this week, Mercedes Martinez, MD, medical director of pediatric abdominal organ transplantation as well as the Intestinal Transplant Program at the Center for Liver Disease and Abdominal Organ Transplantation at NewYork-Presbyterian, shared advice for adequately identifying and diagnosing pediatric autoimmune hepatitis.

Martinez acknowledged the trap many of her peers may fall into: because autoimmune hepatitis is so rare, physicians may not think of the diagnosis first. Particularly, it’s pivotal for pediatricians to prioritize the risk in their patients presenting with liver diseases burden, so as to make an appropriate referral to a hematologist who is more familiar with such cases.

“You have to think about autoimmune hepatitis,” Martinez said. “But when you look at the frequency of how many, it's about 12% of the consults that we do in large centers, and at our center for hepatology, about 12% of my patients might have an autoimmune liver disease, though it is a rare condition.”

Unfortunately the field is currently without a signature test for autoimmune hepatitis, and most patients present with advanced liver disease, including cirrhosis. Other clear indications for pediatricians and guardians may be the child’s stunted growth, jaundice, coagulopathy, or acute liver failure.

Martinez recommended her colleagues prioritize antibody serology tests for pediatric patients from laboratories before referring to a gastroenterologist or hepatologist.

“The backbone of the diagnosis is histology,” Martinez said. “Having a positive autoimmune marker doesn't mean that you have autoimmune hepatitis, but it means that you need to think about immune hepatitis as a possible diagnosis.”

From there, liver biopsies will help characterize the cause of patient inflammation and provide a clearer diagnosis.