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Gaucher's Disease
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Description
Gaucher's 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 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
www.lsdregistry.net/gaucherregistry
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