Gaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver and other organs.
Finding a doctor to diagnose Gaucher disease—a rare disorder that causes fatty substances to build up in the spleen, liver and other organs—can sometimes be a frustrating experience for patients. They typically go from one specialist to another and get sicker and sicker as the doctors scratch their heads.
At Yale Medicine, we have experts ready to help, and patients come to us from around the country for our expertise in Gaucher disease. It is the most common lyosomal storage disease, a family of inherited metabolic disorders that originate in the lysosomes, or parts of the cell that help with digestion.
“We have an internationally recognized program and a national referral base with incredible models of precision medicine and innovative therapies,” says Yale Medicine’s Pramod K. Mistry, MD, PhD, director of Lyosomal Disease & Inherited Metabolic Liver Disease Program. “People come to us because they have very complicated aspects that no one else can figure out.”