Pramod Mistry, MBBS, PhD, FRCP, professor of medicine (digestive diseases) and pediatrics; professor of cellular & molecular physiology, presented statistics, research, and patient examples in the November 15 Department of Internal Medicine’s Medical Grand Rounds: “Gaucher Disease: The Story of How a Rare Inborn Error of Metabolism Transforms our Understanding of Two Common Diseases.”
Gaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver and other organs. Gaucher Disease is classified as a rare disease, per the National Organization of Rare Disorders (NORD), because less than 200,000 people in the United States have the affliction. All told, 30 million Americans suffer from a rare disease. Mistry requested that primary care physicians (PCPs) become more knowledgeable in these diseases because the “PCP plays a central role in the management, diagnosis, acute care, and continued care of these patients.”
Mistry shared patient-centered translational clinical research currently underway as part of the National Gaucher Disease Treatment Center at Yale. Additionally, he spoke of the increased risk that Gaucher Disease patients encounter for multiple myeloma, non-myeloma hematologic cancers, hepatocellular carcinoma, pulmonary hypertension, hemochromatosis, Parkinson’s Disease, and Lewy Body Dementia.
He concluded his presentation with key take-home points for the internist and with the reminder that “patients with rare diseases can see seven or more physicians for up to 20 years to receive the correct diagnosis. During this time, they may go through invasive procedures, the quality of life is terrible, they may become disabled, and may be referred to psychiatry. It is heartbreaking to see patients mislabeled like that. The internist is really the key member of the multidisciplinary team—in 89 percent of these patients, the internist diagnoses the disorder.”
Yale faculty can review a video of yesterday’s Grand Rounds.