Medical Xpress July 3, 2024
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, Ph.D. 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...
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