Dr. Mistry Explains the History of Gaucher Disease

Pramod K. Mistry, MD, PhD, Professor of Pediatrics and Internal Medicine, chief, Department of Pediatric GI/Hepatology, Yale University School of Medicine, describes the history of Gaucher disease beginning 20 years ago when a therapy did not exist for the disease.

Before the development of a treatment patients with Gaucher disease experienced a very degraded quality-of-life and a shorter life expectancy. Chronic disabilities were often developed such as liver disease, cancer, debilitating bone diseases, and rarely pulmonary hypertension. Chronic pain was also very common which often led to an addiction to opioids and other pain medications.

As new treatments were approved there was a huge turn around in the quality-of-life for patients within a very short period of time. The next generation of patients is doing well; many of the chronic side effects of the disease are not as prevalent.

Even with modern treatment options there is still an increased risk of Parkinson’s, osteoporosis, and cancer. This has spurred further research into the mechanisms that drive Gaucher disease.