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Type 1 Gaucher Disease is an autosomal recessive genetic disorder and is the most common member of the class of diseases known as lysosomal storage disorders. It affects both children and adults, and is more prevalent in people of Ashkenazi Jewish ancestry. One in 15 is a carrier, making Type 1 Gaucher Disease even more prevalent than Tay Sachs.

Affected people lack the ability to break down an important metabolite known as glucocerebroside. As a result, this compound accumulates in the body leading to skeletal and internal damage such as enlarged liver and spleen that may or may not be reversible. These symptoms may sometimes be debilitating or disabling.

We recently had the opportunity to sit down and talk about some important and interesting aspects of this potentially devastating genetic disorder with Dr. Neal Weinreb, Voluntary Associate Professor of Medicine, University of Miami Miller School of Medicine, Chair, Scientific Board ICGG Gaucher Registry, Director of the University Research Foundation for Lysosomal Storage Diseases and Senior Physician, Northwest Oncology Hematology Associates PA, Coral Springs, Florida.

Although Type 1 Gaucher Disease is more common among Jews of Ashkenazi descent, it is found in other ethnic groups and nationalities all over the world. On this basis alone, Dr. Weinreb believes it is important for persons of many different nationalities to be familiar with Gaucher disease.

"Worldwide there are many more non-Jewish patients with Gaucher disease than Jewish patients, which is somewhat contrary to popular belief, even in the medical community."

"People face several obstacles when it comes to getting diagnosed with Gaucher Disease," said Dr. Weinreb. "The symptoms are very nonspecific and variable and can be confused with other more common diseases. The disease can lead to potentially disabling bone complications, bleeding problems such as bruising easily, and enlarged liver or spleen. Patients with Gaucher disease may also feel fatigued (due to anemia) and have bone pain. But since these symptoms are similar to other diseases, only about 30 percent of hematologists consider Gaucher disease in the presence of these symptoms."

Other symptoms of Type 1 Gaucher Disease may include difficulty eating a full meal or abdominal discomfort after eating (due to enlarged organs), and lung issues like shortness of breath.

"Unfortunately, these symptoms also mimic a range of other diseases such as iron deficiency, aplastic anemia, blood malignancies, and leukemia," said Dr. Weinreb, "which is why it is such a diagnostic challenge." In rare cases "Gaucher disease may also mimic cirrhosis, rheumatoid arthritis, or various other arthritic conditions."

Another diagnostic barrier is the fact that many physicians still don't realize that the diagnosis can be made with a relatively inexpensive blood test. "The test is available from many large, nationally recognized commercial laboratories," said Dr. Weinreb. "The blood test shows the deficiency of the glucocerebrosidase enzyme, which is the biochemical hallmark of Gaucher disease."

Among the Jewish community, there is a general lack of familiarity with Gaucher Disease. Dr. Weinreb stated that "over the years there have been advertisements, especially in the print media, directed at the Jewish community, yet I still find that if I mention Gaucher disease most people have absolutely no idea what I'm talking about."

He believes that people are often reluctant to confront issues related to their health. "If it's not bothering them, they would probably just prefer to be left alone. But for those people who have the typical symptoms of Type 1 Gaucher Disease, and have bounced around from one physician to another, or perhaps accept their symptoms as a normal part of life, it is important for them to know that this is a treatable disease."

Dr. Weinreb feels that rabbis could potentially play an increased role in educating couples contemplating marriage. It would be helpful if religious and social leaders were better armed to offer advice on genetic testing for disorders directly related to the Ashkenazi community.

The consumer-based media can also help service the Jewish community by providing helpful information on Gaucher disease.

"The media has been open to discussing Gaucher disease and other Jewish genetic diseases and has been very supportive in that regard," stated Dr. Weinreb. "Providing consumers with information has potentially far-reaching benefits to the Jewish community affected by this disease."

For persons who are potential carriers, Dr. Weinreb offered the following advice: "I'm always a big fan of 'the more information you have the better,' so that the opportunity and the responsibility for making decisions rest on involved individuals in conjunction with expert physicians or genetic counselors. For this reason, I favor testing for Gaucher and other relevant genetic diseases for Ashkenazi Jewish couples who are planning to have children (ken yirbu! May their numbers increase!).

"People who suspect they have Gaucher disease shouldn't be afraid to pose questions to their physician, and physicians shouldn't discount their suspicions."

Dr. Weinreb believes that the benefits of testing far outweigh the risks although testing is a personal decision. Parents of Jewish descent should also be prepared to discuss Gaucher disease with their children, especially if either or both parents are confirmed carriers of a Gaucher gene mutation.

"I think they should have a discussion with their appropriately aged children and other family members, including siblings, to at least let them know that there's a chance they could have a Gaucher mutation."

Dr. Weinreb's overall message to the Jewish community is "there is a disease which, especially in the Ashkenazi Jewish community, has the potential to sometimes render people quite ill. It's a treatable disease, yet there's a potential for the diagnosis to be missed. People should not be hesitant to raise the issue with their physicians because determining the yes or no answer is pretty easy.

"Testing for Gaucher Disease is noninvasive, easy, and relatively inexpensive. The value in knowing can pay large dividends compared to the alternative of persistent unexplained symptoms and irreversible complications."

To learn more about Type 1 Gaucher Disease go to www.gauchercare.com.

Dr. Weinreb receives financial support from Genzyme. This article is sponsored by Genzyme.

GAUC-US-P091-04-09