Porphyrias are a rare but highly debilitating set of illnesses, often characterized by symptoms that are disproportionate to exam findings and notoriously challenging laboratory criteria, which makes them highly difficult to diagnose. The hematologist is frequently consulted either when a patient reports symptoms that are potentially consistent with a porphyria or when test results are obtained but the ordering provider is ill-prepared to interpret them.
Algorithms like the one preseznted by Rebecca Karp Leaf, MD, and Amy Dickey, MD, MSc, are invaluable tools for the practicing hematologist who will likely see only a case or two over the course of their career while being asked to evaluate or rule out the disease in numerous patients.
Bethany T. Samuelson Bannow, MD, MCR
Assistant Professor of Medicine
Oregon Health & Science University
Tanya and VectorMine/stock.adobe.com
Reference
Leaf RK, Dickey AK. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood. 2023; 141(21):2921-2931.