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Home Page > Diseases by Region: Ashkenazi > Gaucher Disease

Gaucher Disease
by Yael Rosenberg, RN

Description
Gaucher disease is an autosomal recessive disorder that is the result of mutation of the GBA gene located on chromosome 1. It affects many of the body’s tissues and organs. Also known as cerebroside lipidosis and familial splenic anemia, this condition was named for the physician who first described the disease, Dr. Philippe C. 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.

There are 3 major types of Gaucher Disease which are categorized by researchers according to their characteristic features and age of onset. (2 others have been identified)

Type I
Also called non-neuropathic since it usually does not affect the central nervous system, is the most common form of this disorder. The gene responsible for this type has been mapped to chromosome 1. The characteristic aspects of this disease range from mild to severe and may emerge at any point of the patient’s lifetime, though most patients are diagnosed at age 20.

Type II & III
These types of Gaucher disease are categorized as neuropathic forms as they cause problems and issues in the central nervous system. Gaucher disease Type III progresses more slowly than Type II. Most children who have type II die at age two; while those with type III develop symptoms during childhood or adolescence.

Perinatal Lethal Form
This type of Gaucher Disease is the most severe form of the disorder. It causes life-threatening complications beginning before birth or during infancy. Infants with perinatal lethal form of Gaucher Disease survive only a few days after birth.

Cardiovascular Type
As the name implies this form of Gaucher Disease affects primarily the heart, causing the heart valves to calcify.

Symptoms
The symptoms of Gaucher disease type I 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. 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)
  •  Arthritis

Type II and III are the rarer types which often present with neurological problems. In addition to presenting with many of the symptoms that those with type I have, types II and III can cause abnormal eye movements, seizures and brain damage.

Perinatal Lethal Form presents with the following symptoms:
   • Extensive swelling due to fluid build-up before birth
   • Dry scaly skin or other skin abnormalities
   • Enlarged liver and spleen
   • Distinctive facial features
   • Severe neurological issues.

Cardiovascular Type may have the following symptoms
   • Hardening of heart valves
   • Mild enlargement of spleen
   • Bone disease
   • Eye abnormalities

Older individuals with all types of Gaucher disease have an increased risk of developing certain cancers.

Incidence and Carriers
Prevalence of all types in general population: 1 in 50,000 and 100,000

Type I Gaucher disease is the most common genetic disease among Jews of Ashkenazi heritage.

Carrier frequency: Approximately 1 in 12 in Jewish population; 1 in 100 in the general population in the United States

Disease frequency: Approximately 1 in 500 to 1000 in Ashkenazi Jewish population; 1 in 40,000 in the general population in the United States.

Types II and III are not more prevalent among the Jewish population than any other.

Type III disease frequency is greater in Norrbottnian region of Sweden 1 per 50,000 population

Treatment
Presently there is no cure for Gaucher disease. A number of people with type I Gaucher disease have extremely mild symptoms and therefore do not need to be treated. However there are treatments typically prescribed for types I and III. Currently there is no specific treatment for type II.

Treatments for Type I and III
-
Enzyme Replacement Therapy (ERT):
This treatment utilizes synthetic (man-made) enzymes which are administered to the patient in order to replace the deficient enzymes. The enzyme is injected into the patient every two weeks for the rest of their life to reduce the accumulation of the detrimental glucocerebrosides in the body. Results of this therapy have been varied but it has been most frequently effective for those who have type I Gaucher disease. Patients receiving ERT have shown a reduction in the enlargement of the spleen and liver, as well as resolution of some blood abnormalities. Children receiving this treatment often exhibit a growth spurt and weight gain.

-Substrate Reduction Therapy (SRT)
For individuals unable to take enzyme replacement therapy, substrate reduction therapy is the preferred alternative. SRT is given in a form of oral medication Zavesca which is known to cross the blood-brain barrier. SRT works by inhibiting the body’s ability to produce the enzyme responsible for the synthesis of glucocerebroside. With the decrease in the fatty substances, glucocerbroside, the lysosomes are able to catch up and eliminate the excess fatty substance buildup,. SRT has been shown to decrease the size of the liver and spleen, though other therapeutic responses were more favorable with ERT. In addition, SRT does cause certain adverse effects such as; diarrhea, stomach pains, loss of weight and peripheral neuropathy.

-Bone Marrow Transplantation
A highly risky and very invasive technique, bone marrow transplantation is currently used only for those with serious cases of Gaucher disease who cannot receive ERT. In this surgical procedure, the blood forming cells damaged by Gaucher disease are taken out and replaced by a healthy donor’s cells. If this technique is successful it affords the patient a lifelong cure.

-Surgery
Patients may undergo orthopedic surgery if bones and joints are affected by Gaucher. On rare occasions the spleen may be removed if patients are unable to receive ERT or the spleen enlargement impedes other organs.

Testing
Diagnosis: confirmed by blood test for low glucocerebrosidase enzyme

DNA testing detects about 89% - 96% of gene mutations in Ashkenazi Jews with the disease and can identify carriers.

Prenatal testing for Gaucher disease is done via chorionic villus biopsy or amniocentesis

For those diagnosed with Gaucher, periodic tests are done to ascertain progression of the disease. Those include: Dual energy X-ray absorptiometry that measures bone density, and magnetic resonance imaging (MRI) to check for spleen and liver enlargement.


Laboratories and Screening
The following laboratories offer genetic testing for Gaucher disease:
   •  United States
   •  Israel
   •  Canada
   •  India
   •  Europe

UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free (866) 262-7943
Phone (949) 900-5500
Fax (949) 900-5501

ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email: clientservices@aruplab.com

Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu

Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092

Cincinnati Children's Hospital Medical Center, Division of Human Genetics
3333 Burnet Avenue,
Cincinnati, Ohio 45229-3039
Phone: (513) 636-4474
Fax: (513) 636-4373
Email: moleculargenetics@cchmc.org

Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)

Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658

Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu

Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Toll Free: (800) 848-4436

LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542

Jewish Genetic Screening Program, New York Methodist Hospital
506 6th St.
Brooklyn, NY 11215
Phone: (718) 780-5799

Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email: rochelle.pakier@mssm.edu

New Jersey Medical School
Institute of Genomic Medicine
University Hospital
Director: James J Dermody, PhD, FACMG
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795

NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590

PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web: http://www.preventiongenetics.com 

Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874

Seattle Children's Hospital
Department of Laboratories
A-6901
4800 Sand Point Way NE
Seattle, WA 98105
Phone: (206) 987-2617
Fax: (206) 987-3840
Email: LabClientServices@seattlechildrens.org

ISRAEL
Assaf Harofeh Medical Center
Molecular Genetics Laboratory
Zerifin, Israel
Phone: (+972) 8-977-9617
Web: http://www.assafh.org/ENG/index.asp

The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb, Haifa , 33394
Phone: (+972)-4-835-9851
Phone: (+972)-4-835-9495
Web: http://www.b-zion.org.il 

Carmel Medical Center
Molecular Genetics Laboratory
Michal Street, Haifa 34362
Phone: (+972) 4-8250407

Edith Wolfson Medical Center
Molecular Genetics Laboratory
Holon, Israel
Contact: Esther Leshinsky-Silver, PhD
Phone: (+972) 3- 502- 8692
Fax: (+972) 3- 502- 8543

GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il 

Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972)-4-6495416
Email: morad_kh@clalit.org.il

Kaplan medical center, Molecular Genetics Laboratory
REHOVOT , ISRAEL
Phone: (+972) 8-944-1534
Web: http://www.clalit.org.il/kaplan

Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba , Israel
Phone: (+972) 9-747-1059
Web: http://www.clalit.org.il/meir/Content/Content.asp 

Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22 Rosh Haayin 48056 Israel
Phone: (+972)-3-915-5330
Fax: (+972)-3-915-5331
Web: https://www.meuhedet.co.il

Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email: info@prontodiagnostics.com

Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il

Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972) 4-854-2456

Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il

Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel

CANADA
Genetrack Biolabs Inc.
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Contact: Kevin Chu
Phone: (604) 325-7282
Fax: (604) 325-2208
Email: kevin@genetrack.bc.ca 

INDIA
Sir Ganga Ram Hospital
Center of Medical Genetics
New Delhi, Delhi, India
Contact: Renu Saxena, PhD
Phone: (+91) 11-42252139
Fax: (+91) 11-42251034
Email: renu@saxena.com

EUROPE
   •  Germany
   •  Netherlands
   •  Spain

GERMANY
Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr. Nadine Bachmann
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Email: nadine.bachmann@bioscientia.de

Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381 7022750
Fax: (+49) 381 7022759
Email: mail@diagenom.de

Dr. Eberhard and Partner
MVZ Dortmund
Dortmund, Nordrhein-Westfalen, Germany
Phone: (+49) 231-95720
Fax: (+49) 231-579834
Email: genetik@labmed.de

NETHERLANDS
Academic Medical Centre, University of Amsterdam
DNA Diagnostics Laboratory
Amsterdam, Netherlands
Contact: Marcel M.A.M. Mannens, PhD
Phone: (+31) 205667899
Fax: (+31) 2056699689
Email: kg dna@amc.uva.nl 

SPAIN
IMEGEN (Instituto de Medicina Genómica, S.L.)
Science Park. University of Valencia
C/ Catedrático Agustín Escardino, 9
E46980 Paterna (Valencia)
SPAIN
Phone: (+34) 963 212 340
Fax: (+34) 963 212 341
Email: info@imegen.es


Resources and more
The Comprehensive Gaucher Treatment Center
9090 Wilshire Blvd., Suite 200
Beverly Hills, CA 90211
Phone: 310-888-8680
Phone: (888) 248-4456
Fax: (310) 285-7298
Email: info@gaucherwest.com

Dr. Harry Dunn
Gaucher Program
Phone: (518) 786-7723

Children’s Gaucher Research Fund
Website: http://www.childrensgaucher.org

Gaucher’s Association
25 West Cottages
London NW6 IRJ
UK
Phone: (+ 44) 171 433 1121
Email: support@gaucher.net

National Gaucher Foundation, Inc.
11140 Rockville Pike
Suite 350
Rockville, MD 20852
Toll Free: (800) 925-8885
Phone: (301) 816-1515

Gaucher’s Southeast Treatment Center
Phone: (954) 721-4720
Website: http://www.gauchersoutheast.com


Support Groups
International Collaborative Gaucher Group (ICGG) Gaucher Registry
Web
: http://www.lsdregistry.net/gaucherregistry

United States & Other Non-European Countries
Gaucher Registry
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
USA
Toll Free: (800) 745-4447, x15500

Latin America
Gaucher Registry
Genzyme do Brasil Ltda.
Praça Floriano, 19 - 26° Andar - Centro
20031-050 Rio de Janeiro - RJ
Phone: (+55) 21-2156-9989
Email: help@gaucherregistry.com

Europe
Gaucher Registry
Genzyme Europe BV
Gooimeer 10
1411 DD Naarden
The Netherlands
Phone: (+31) 35-699-1232

 

SUGGESTED READING

Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
     ------------
Books: Jewish Genetic Diseases

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