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Gaucher's Disease
by Yael Rosenberg, RN
• Description
• Symptoms
• Incidence and Carriers
• Treatment
• Testing
• Resources and More
• Support Group
Description
Gaucher Disease is an inherited disease. An enzyme deficiency disorder. Gaucher Disease, also called cerebroside lipidosis and familial splenic anemia, is an autosomal-recessive condition named after French physician Philippe Gaucher. Gaucher Disease occurs at any age, but it is most dangerous and most severe in infants. In essence, Gaucher Disease results from the deposition of glucocerebroside in the liver, bone marrow, and spleen. The enzyme glucocerebrosidase normally breaks down glucocerebroside, but patients with Gaucher Disease do not manufacture enough of the enzyme, and deposition of glucocerebroside results.
Symptoms
The symptoms of Gaucher Disease are extremely variable. Each person can exhibit a very different clinical course. Some individuals are mildly affected and have little or no health problems; others show much more significant problems, either from an early age or later in life. Some people even develop a progressive condition; therefore, periodic assessment may be appropriate throughout a person's lifetime. Symptoms range from mild to severe and can appear at anytime from infancy to old age.
In addition to individual variability, Gaucher Disease occurs in three major types. The most common type (Type 1) is known as "acid beta-glucosidase deficiency" or "non-cerebral juvenile type." The gene responsible for this type has been mapped to chromosome 1, and it is Type I that has a high prevalence among Ashkenazi Jews; Only 30% of people who have this type of disease will show symptoms.
Symptoms include:
• Anemia
• Fatigue
• Easy bruising
• Tendency to bleed due to reduced platelets
• Enlarged spleen and liver
• Bone pain (bone crisis)
• Osteoporosis – general demineralization of the bones
• Spontaneous fractures (due to weakening of the bones)
Persons with Gaucher’s Disease have an increased cancer risk.
Type II and III are the rarer types which often present with neurological problems.
Incidence and Carriers
Type I Gaucher’s Disease is the most common genetic disease among jews. An estimated one in 450 to one 1500 in people of Ashkenazi descent are carriers. (Estimated: One in Ten Ashkenazi Jew is a carrier of Gaucher’s.)
Onset of Type I Gaucher’s could be at any age and life span is six to eighty plus years.
An individual has to inherit a change gene from both parents in order to have the disease.
If two carriers for Gaucher’s Disease have a child each child has:
• One in Four chance of having Gaucher Disease.
• Two in Four chance of being a carrier
• One in Four chance of neither having Gaucher nor being a carrier.
• Unaffected siblings of individuals with Gaucher have a Two in Three chance of being carriers.
Types II and III are not more prevalent among the Jewish population than any other.
Gaucher testing will have one of the following results:
• If both members of a couple are tested and found to be negative, their chance of having an affected child is less than 1 in 500,000.
• If only one member of a couple is tested, the test is negative, and the partner is not tested, their chance of an affected child is approximately 1 in 30,000.
• If one member of a couple tests positive and their partner negative, then their chance of having an affected child is about 1 in 1,500.
• If both members of a couple are tested and found to be positive, then their chance of having an affected child is 1 in 4.
Treatment
Ask your health care provider about Type I enzyme replacement therapy
Genzyme Corporation: Ceredase® (alglucerase injection) is indicated for use as long-term enzyme replacement therapy for patients with a confirmed diagnosis of Type 1 Gaucher disease who exhibit signs and symptoms that are severe enough to result in one or more of the following conditions:
• Moderate-to-severe anemia;
• Thrombocytopenia with bleeding tendency;
• Bone disease;
• Significant hepatomegaly or splenomegaly.
Testing
Diagnosis: confirmed with enzyme testing done via a blood test
DNA testing detects about 89% - 96% of gene mutations in Ashkenazi Jews with the disease and can identify carriers.
There is a carrier-screening test
that can determine, by testing a sample of blood, whether or not a gene change is present in the gene for Gaucher’s Disease.
Prenatal diagnosis for Gaucher’s can be attained with the use of CVS (Chorionic Villus Sampling) or Amniocentesis, which are performed early in the pregnancy.
Resources and more
Albany Medical Center MC-52
47 New Scotland Avenue,
Albany, New York 12208-3479
1-800-456-9900
Voice mail optional in English or Russian
Gaucher Hotline
Linda B. LaBier, RN
Gaucher Program Manager
518-262-5995
Dr. Harry Dunn
Gaucher Program
518-786-7723
Mount Sinai School of Medicine
Department of Genetics and Genomic Sciences
Comprehensive Gaucher Disease Treatment Center
One Gustave L. Levy Place
Box 1497
New York, NY 10029-6574
Tel: (212) 241-0915
Fax: (212) 426-9065
National Gaucher Foundation, Inc.
11140 Rockville Pike
Suite 350
Rockville, MD 20852
Telephone:301-816-1515
Toll Free: 800-925-8885
Gaucher’s Association
25 West Cottages
London NW6 IRJ
UK
Telephone: 00 44 171 433 1121
Email: support@gaucher.net
NORD
P.O.B. 8923
New Fairfield, CT 06812
Toll Free: 800-999-6673
Telephone: 203-746-6518
Gaucher’s Southeast Treatment Center
Telephone: 954-721-4720
Website: http://www.gauchersoutheast.com
The Comprehensive Gaucher Treatment Center
9090 Wilshire Blvd., Suite 200
Beverly Hills, CA 90211
Phone: 310-888-8680
1-888-248-4456
Fax: 310-285-7298
Email: info@gaucherwest.com
Center for the Study and Treatment of Jewish Genetic Diseases
at UPMC Health Systems
The Gaucher’s Disease Diagnosis and Treatment Program
Contact: Erin Rice MS CGC – Program Director
Toll Free 800-334-7980
National Foundation for Jewish Genetic Diseases Inc.
250 Park Avenue, Suite 1000
New York, NY 10017
Telephone 212-371-1030
Support Groups
International Collaborative Gaucher Group (ICGG) Gaucher Registry
http://www.lsdregistry.net/gaucherregistry
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