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Gaucher Disease.

Q Our 18-year-old daughter was recently diagnosed with Gaucher disease. She has been healthy all her life, but at a recent physical examination, her doctor determined she has an enlarged spleen; further evaluation led to the diagnosis. Apparently, the gene for this disease runs in our family. My cousin's child had what I think was Gaucher disease when she was very young, but she was always sick and died before the age of four.

My cousin told me that a medication is available to treat this illness. What do you think about it? My cousin has also been wondering why her child was not offered this treatment.

A Gaucher disease is an inherited disorder, the most common of the so-called "storage" disorders. (Tay-Sachs disease is probably the best-known of these.) Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase, which is responsible for breaking down and digesting glucocerebroside, a by-product of the normal recycling of red blood cells.

Because individuals with Gaucher disease cannot break down glucocerebroside, it remains stored in some cells of the body. Organs containing these "Gaucher cells" may become enlarged and stop functioning properly. Gaucher disease most often affects the spleen, liver and bone marrow. However, it can also affect the lymphatic system, lungs, skin, eyes, kidney, heart and, in rare cases, the nervous system.

Although most common among Jews of Eastern European (Ashkenazi) descent, Gaucher disease occurs in individuals of all ethnic groups. It is extremely variable in its signs and symptoms, ranging from severely affected infants to asymptomatic adults.

Gaucher disease is usually categorized as one of three types. Type 1, sometimes called the "adult" or "chronic" form, is the most common. This form of the disease is most commonly diagnosed in the late teens, but may occur at any age. It often involves the spleen, liver and bone marrow, but spares the central nervous system.

Type 2, formerly called "infantile" Gaucher disease, is a very rare, rapidly progressive form of the disease, characterized by severe and significant involvement of the nervous system as well as the organs affected by Type 1 Gaucher disease. The onset is usually in the first few months of life. Children with this illness generally do not live past two years of age.

Type 3, formerly called "juvenile" Gaucher disease, is almost as rare as Type 2. Characterized by a slowly progressive neurologic disease, symptoms of Type 3 Gaucher disease appear in early childhood. Other than the nervous system involvement, Type 3 symptoms resemble Type 1.

Individuals with Type 3 Gaucher disease who reach adolescence may survive into the third or fourth decade of life.

Historically, treatment for all forms of Gaucher disease has been supportive. At one point, bone marrow transplantation was found to be an effective therapy for affected individuals in which the central nervous system was not yet involved. Unfortunately, this form of treatment turned out to carry unacceptably high risks of graft-versus-host disease.

More recently, enzyme infusion therapy (giving the needed enzyme intravenously on a periodic basis) has been used as a treatment for Type 1 and, to a lesser extent, Type 3 Gaucher disease. This therapy uses either imiglucerase or alglucerase, both of which are forms of the enzyme glucocerebrosidase. The treatment appears especially promising for Type 1 Gaucher disease; however, further studies are needed to determine the optimal dose and duration of the enzyme infusion therapy, as well as the best time to begin treatment. In other words, is it better to start before or after symptoms first appear? In the future, Gaucher disease and other enzyme-deficiency diseases may be treated with gene therapy.

Given your daughter's age, and your description of her symptoms, it appears that she has the Type 1 form of Gaucher disease. You and she should discuss the possibility of enzyme replacement therapy with her physician. Your cousin's child probably had Type 1 Gaucher disease also, but with an unusually early age of onset and more severe symptoms. Even if enzyme replacement therapy might have helped her, since that treatment has come into use only in the last four or five years, it might not have been available when she first became ill.

For more information, you may wish to contact the National Gaucher Foundation, 11140 Rockville Pike, Ste. 350, Bethesda, MD 20852; (800) 925-8885.

(*) Our thanks to Dr Robin Berman of the National Gaucher Foundation, who reviewed this month's column

In this column, David Hirsch, M.D., a pediatrician and member of Exceptional Parent's Editorial Advisory Board, answers questions from readers. Dr. Hirsch is a partner in Phoenix Pediatrics, Ltd., in Phoenix, Arizona. He specializes in treating children with developmental disabilities and chronic illnesses.

Since Dr. Hirsch has not examined the child in question, parents need to review his suggestions with appropriate professionals. Mention of specific products or medications illustrate suggestions; he is not endorsing any specific products.

Send Questions to: Ask the Doctor, Exceptional Parent, 209 Harvard Street, Suite 303, Brookline, MA 02146-5005; (617) 730-8742 (fax).
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Title Annotation:Ask the Doctor
Author:Hirsch, David
Publication:The Exceptional Parent
Article Type:Column
Date:Aug 1, 1996
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