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Gaucher Disease: Targeting the Jewish Community

By: Mark Levin, M.D.

Last June Genrietta Grossman of Bensonhurst came to me with an enlarged liver and spleen, as well as pain in her back and joints and advanced anemia. The 73-year-old Jewish woman from Russia had a rare condition called Gaucher Disease.

In affecting a narrow slice of the population, Gaucher Disease -- pronounced "Go-Shay" -- is virtually unique.

Like Genrietta Grossman, two-thirds of its victims are Ashkenazi Jews, natives of Central and Eastern Europe. About one in every ten Ashkenazi Jews is a carrier and one in every 500 actually has the disease. Studies show that the rate among Orthodox Jews in New York City is between one in 450 and one in 1,000. New York City is estimated to have one-fourth of the Gaucher population in the U.S.

By comparison, only about one in every 20,000 to 40,000 in the general population has Gaucher Disease.

Gaucher Disease is a genetic disorder, named after Phillippe Gaucher,, a French medical student who in 1882 identified the cells that are characteristic of the disease. The cause of Gaucher Disease is a shortage of an enzyme called glucocerebrosidase. As a result, fatty substances accumulate in the body tissues of the spleen, liver and bone marrow. Genetics experts believe that Gaucher Disease may be the byproduct of a mutation that arose as long as a millennium ago.

The most common symptoms of Gaucher are enlarged spleen and liver, anemia, frequent nosebleeds from poor blood clotting, bone pain and fractures, fatigue and easy bruising. Typically, these signs emerge either in childhood or early adulthood, usually between the ages of 30 and 40.

It is believed that for every known cause of Gaucher two cases remain undiagnosed. What to do? Candidates for the disease need to take into account family history. Individuals of Jewish ancestry, either with or without a family history, are candidates for testing. Unless symptoms appear, screenings are recommended only for those 18 and older. If you have a family history, you can come in to The Brookdale University Hospital and Medical Center, or its Family Care Center in Sheepshead Bay, for a simple and free blood test and an evaluation.

Once the disease is diagnosed, a physician can determine its severity and whether treatment is indicated at this time or whether observation and treatment later, as symptoms develop, would be sufficient.

If you are a carrier, your health is unaffected. Carriers have no apparent symptoms. But this status has implications for your children. Carriers who are planning a family should discuss the matter with their partners. If husband and wife are both carriers, the children are at risk for disease and the couple should go for genetic counseling to weigh risks and options. Prenatal tests are available for interested at-risk couples.

If both parents are carriers, the child has a one in four chance (25%) of Gaucher Disease. Those same parents have a one in two chance (50%) of having a child who is a carrier. If one parent has the disease and the other is neither a carrier nor has the disease, all the children will be carriers. If one parent has the disease and the other is a carrier, there is a 50% chance that each child will have the disease and a 50% chance that each child will be a carrier.

Gaucher is a lifelong illness, incurable but treatable. Treatment is lifelong. If you have the disease, you will undergo a full evaluation. If the disease requires treatment, you will receive an intravenous maintenance medication, usually Cerezyme, for 30 minutes to an hour every other week. This drug provides enzymes to metabolize the fatty substances in the bloodstream.

Fortunately, Genrietta Grossman is doing much better now. We started her on Cerezyme and her general condition -- her strength and endurance -- has improved. Her liver and spleen have diminished, as has her bone pain, while her platelet and red cell counts have increased. As she found out, the key is to keep the condition under control.

For more information, please call Dr. Mark Levin at (718)- 240-6147.

Mark Levin, M.D., is Co- Director, Division of Medical Oncology and Hematology, The Brookdale University Hospital and Medical Center