In a recent telephone survey, researchers presented the following set of symptoms to hundreds of hematologists and oncologists from around the world: A 42-year-old man has complaints of chronic fatigue and bone pain, while suffering from a low blood-platelet count and an enlarged liver and spleen.
Had the patient been real and not hypothetical, he would have been misdiagnosed by four doctors out of five. The correct answer: Gaucher disease.
The poll, conducted by the biotech company Genzyme, found that most of the doctors surveyed would not even have asked for a Gaucher test.
Michael Schneider, associate director of marketing for Genzyme, found the results troubling. If doctors don’t test for Gaucher, he said, treatment will focus only on symptoms and not on the root cause of a Gaucher sufferer’s ills.
“We became alarmed by how low the awareness was of the disease,” he said. “I mean, we’ve been trying to educate people for 14 years on Gaucher disease. In fact, there are treatment centers that specifically know how to assess people on the disease. There is a very simple blood test they can do to positively identify patients to see if they are lacking a specific enzyme, but the fact is, if the doctors don’t consider Gaucher as a possibility they won’t get that test.”
Gaucher, a lipid-storage disorder that causes abdominal distention, bone deterioration and anemia, is the most common of all Jewish genetic diseases. According to the National Gaucher Foundation, one out of every 450 Ashkenazic Jews has Gaucher, and one out of every 15 is a carrier. If two carriers have children, one in four of their offspring will likely have the disease, Schneider said.
The general population is so unaware of Gaucher, said Walt Harris, Genzyme’s senior market-research manager, that as many as 8,000 people in the United States may have the disease and not know it.
“With Gaucher, you get death of bone,” Schneider said. “It is so extremely painful that, eventually, some of them have to be hospitalized and put on narcotics, and unfortunately sometimes that’s how people are finding out they have Gaucher — when they end up with this excruciating bone crisis.”
Schneider said that to overcome the lack of Gaucher awareness in the medical community, individuals should proactively seek testing if they know of anyone in their family who has had it.
A second survey conducted by Genzyme showed that lack of knowledge about the disease is just as prevalent among the Ashkenazic Jewish population, the community it most commonly affects, as it is among the population at large.
The survey reached a cross section of Jewish households among three heavily Jewish areas: New York, southern Florida and Los Angeles.
Kate James, one of the researchers on the project, said that only 6% of those surveyed were aware of Gaucher, with Jews in southern Florida being the least knowledgeable about the disease.
Of the Jewish households polled, 57% were familiar with Tay-Sachs disease and its symptoms, even though Gaucher is twice as common.
Rhonda Buyers, the National Gaucher Foundation’s executive director, finds these statistics particularly disconcerting.
“Tay-Sachs is fatal, and I think that causes people to sit up and listen,” she said. “But what people need to know is that Gaucher is serious, and it can be very painful and debilitating. We just have to get out there and keep educating.”