Gaucher Disease

Gaucher disease is a rare inherited disease affecting 1 in 40,000 people, but it’s even more prevalent in those of Ashkenazi Jewish decent, affecting 1 in 500. Diagnosis of the disease can be frustrating, as the symptoms resemble many other conditions, but our experts are well versed in the early diagnosis and treatment of Gaucher disease, continuously advancing the science of the disease to improve treatment and health outcomes.

Gaucher Disease causes the buildup of fatty cells in organs like the liver, spleen, nervous system and bones due to low levels of an enzyme called glucocerebrosidase. This buildup may cause organs to enlarge affecting their function, weaken bones, increase the risk for fractures, and eventually could lead to joint replacement surgeries if untreated. 

Our team also treat patients with other lysosomal diseases including Fabry disease, Pompe disease, Mucopolysaccharidosis and Niemann Pick type A, B and C. 

Our Team

Our skilled medical team is internationally known for their sustained efforts over the past 20 years for advancing treatment through innovative research. The team is comprised of hepatologists, gastroenterologists, hematologists/oncologists, orthopedists, neurologists, pulmonary hypertension specialists and experts in Parkinson disease. They provide compassionate care with the use of high-end personalized medicine based on biomarker (a measurable indicator of the severity or presence of some disease state) and genetic profiles to offer treatments that reflects the needs of the individual patient. Patients also have the unique ability to participate in clinical trials and new therapies. 

As part of the Gaucher Center for Lysosomal Diseases, we are dedicated to the holistic, individualized, and science-driven care of patients with Gaucher disease. Discoveries at the Center on biomarkers, treatment responses, immune activation, and new treatments in Gaucher disease have influenced future advancements in the field. The Gaucher Center for Lysosomal Disease is ranked among the top centers in the world for research and treatment of this condition.

Symptoms

There are three different forms of the disease; Symptoms tend to vary depending on the disease severity and type, but usually include:

• Anemia and fatigue
• Bleeding and bruising issues
• Bone pain or easily fractured bones
• Swollen stomach due to enlarged liver and spleen
• Painful bone crises

Diagnosis

An accurate diagnosis of Gaucher disease is important, as the signs and symptoms can resemble other diseases and conditions. We offer comprehensive diagnostic testing and evaluation, which may include:

• Assessment of individual course of disease symptoms
• Biomarker profiling
• Dual energy X-ray (DXA) or magnetic resonance imaging (MRI) to examine bone health
• Echocardiogram to assess for pulmonary hypertension
• Enzymatic testing
• Genetic testing
• Screening for cancers

If both parents are carriers of the gene for Gaucher disease, each pregnancy has a 1 in 4 chance that the baby will have the disease. We offer unique prenatal testing for Gaucher disease in early pregnancy and collaborate with maternal fetal medicine specialists to care for you and your baby throughout your pregnancy.

Treatment

Treatment for Gaucher disease varies depending on the type diagnosed. A combination of treatments and routine monitoring can help control symptoms, prevent further damage and improve quality of life. We are growing our infusion programs to help treat our patients. Some available therapies include:

• Enzyme replacement therapy (ERT): balances low levels of glucocerebrosidase, the underlying cause of Gaucher disease
• Substrate reduction therapy (SRT): oral medicine that decreases the rate that glucocerebroside is formed in the body so excess buildup is reduced