A Primer on Gaucher's Disease

Are you or someone you love affected by Gaucher's disease?

A genetic disease, Gaucher's is caused by the deficiency of an enzyme that is the result of a genetic mutation. Without the enzyme, lipid (a fat) accumulates in the body and can cause symptoms that may appear any time.

Third year resident physician Malika Gupta, MBBS, presented at the Dr. Jennifer Ann Kierson Memorial Pediatric Grand Rounds at Sinai Hospital on Thursday, offering a primer on Gaucher’s disease.

Gaucher's disease symptoms can include, but are not limited to:
• easy bleeding and bruising
• excessive fatigue
• anemia
• weak bones
• enlarged liver and/or spleen causing a swollen stomach

There are three different types of Gaucher’s disease: Type 1, 2 and 3.

While Type 1 occurs throughout the world, it is most prevalent in descendants of Eastern European Jewish people. Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people. The brain and spinal cord are not impacted in those with Type 1.

However, Types 2 and 3 are characterized by brain stem abnormalities. Type 2 is usually fatal during the first three years of life and occurs rarely; 1 in 100,000 live births. Type 3 Gaucher's disease is estimated to occur in 1 in 50,000 live births. The neurological symptoms of Type 3 Gaucher's disease are slowly progressive and appear later in childhood than the symptoms of Type 2 Gaucher's disease. Neurological symptoms of Type 3 Gaucher's disease include a lack of coordination, mental deterioration, and seizures.

Even if you do not have Gaucher's disease, you may be a carrier, as the National Gaucher Foundation estimates that, among Eastern European Jews, the carrier rate is around 1 in 15 people. Carrier status can be determined through a blood test. Talk to your physician about whether you might be a carrier.

If you suspect you or your child has Gaucher's disease, there are treatment options. To learn more about Sinai Hospital or to schedule an appointment, call 410-601-WELL (9355).

-Sandra Crockett