Newswise — In her first year at the David Geffen School of Medicine at UCLA, Katharina “Kat” Schmolly, MD, heard an old saying: “When you hear hoofbeats, think of horses, not zebras.” The medical maxim is a caution for physicians to prioritize likely causes rather than uncommon diagnoses. Dr.
Schmolly, an undergraduate student of equine science and a former horse trainer, was on board. But she began to reconsider during a hepatology lecture by Simon W. Beaven, MD, PhD .
At his clinic in the Pfleger Liver Institute , Dr. Beaven treats patients with acute hepatic porphyria (AHP), a family of rare genetic diseases. Symptoms affect mostly women, often coinciding with the menstrual cycle, with severe, sometimes life-threatening, attacks that include abdominal pain, nausea and vomiting, limb weakness and anxiety.
“Women unfortunately get dismissed when they go to the emergency department over and over again for these complaints,” said Dr. Schmolly. “Because it looks like it's menstrual pain, but actually, it could be a true liver disease.
” She said the unfairness of it inspired her to found zebraMD (Link is external) , which uses artificial intelligence to help diagnose and manage rare and genetic diseases. A predictive algorithm combs through electronic health records to identify disease patterns and flag patients who may be at risk so physicians can further test and diagnose. The model flips the medical maxim to highlight the rare zebras over commonly known hors.