NGF News

Physician Promotes Universal Screening for Gaucher's Disease
By Deborah Moon Seldner/Jewish Review

Dr. Robert Steiner is a staunch supporter of genetic testing among Ashkenazi Jews for Gaucher's disease and a strong proponent of making Gaucher's screening for newborns universally available.

Because symptoms are vague and early treatment is critical, Steiner said it is very important for people to be aware of Gaucher's disease, which occurs in about one in 1,000 Ashkenazi (eastern European) Jews. An estimated one in 10 to one in 20 Ashkenazi Jews are carriers of the recessive genetic disease, meaning if two carriers have a child, each child has a 25 percent chance of having the disease.

Steiner is the chief of the division of metabolism and an associate professor of pediatrics, molecular and medical genetics at Oregon Health and Science University. One of his areas of research is lysosomal storage disorders, which covers most Jewish genetic disorders including Gaucher's and Tay-Sachs, he said.

"There are complications of Gaucher's that are irreversible," said Steiner. "They can be prevented with early treatment. But if treatment is started too late, conditions such as avascular necrosis (bone death) of the hip … which leads to hip degeneration, are irreversible. That can happen fairly quickly."

Symptoms of Gaucher's disease include fatigue, easy bruising, nosebleeds, heavy menstrual bleeding, bone pain, hip pain and an enlarged belly, said Steiner, all of which can be due to other more common causes.

Given the vagueness of the symptoms and the fact that "it's not a condition doctors are out there looking for—they may have had one lecture on Gaucher's in all medical school," Steiner said he believes testing is very important.

Currently, newborn testing is being done very successfully in research trials, he said. He said he hopes the test will be available universally to newborns in the United States within the next two years. Steiner said newborn screening for other diseases currently costs about $54 per child in Oregon and adding the test for Gaucher's and other lysosomal storage diseases would only add one to two dollars to that amount.

Even though Gaucher's is rare in the general population, he said he believes the test should be given to all infants given the low cost of testing and high benefit of early treatment.

Given the high rate of disease in the Ashkenazic population, Steiner said he supports including the disease in a screening panel of genetic tests for diseases such as Tay-Sachs and Canavans disease that many Jewish couples have before having children.

Steiner said that given the high cost of treatment—$150,000 to $300,000 per year—doctors would likely watch children known to have the disease and begin treatment at the first sign of symptoms. Steiner said that the intravenous enzyme replacement therapy also would be stressful and difficult for newborns.

The severity and age of onset of symptoms are very diverse, said Steiner.

"I've taken care of a child with Gaucher's who had very severe symptoms by age 5—a hugely enlarged spleen and liver and growth failure," he said. "On the other extreme, I've seen people in their 70s with a moderately enlarged spleen and no other symptoms. The typical patient is in between. The first signs and symptoms are usually in adolescence or young adulthood and then there is a slow progression."

"But we've altered the natural progression of Gaucher's now that we have treatment available," he added.

Gaucher's disease is treated every two weeks with intravenous Cerezyme®, which replaces the enzyme not manufactured in sufficient quantities by patients with Gaucher's. Steiner said the Cerezyme® can be administered at an infusion center or by a home-care nurse, or can be self administered after training, depending on patient and insurance company preference.

Steiner said the FDA recently approved another treatment for patients who cannot tolerate the ERT. Zavesca® is a pill taken daily. The alternative treatment doesn't work as well, but it's a nice option, said Steiner.

"The signs and symptoms are so vague and physicians' knowledge is less than optimal, so I think newborn screening would be a great service," Steiner concluded.

Back to top