Gaucher's Disease

Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.

There are three types:

Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.

Gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.

National Institute of Neurological Disorders and Stroke

Gaucher's Disease on Wikipedia

In medicine (hematology), '''Gaucher's disease''' (or ''Gaucher disease'', pronounced "Go-shay") is a genetic disorder that affects platelets, white blood cells, the spleen, bones, and in Types II and III, the brain. It is the most common lysosomal storage disease. It is eponym the France doctor who originally described it in 1882. The disease is caused by a mutation in the gene for the enzyme ''acid β-glucosidase'', leading to an accumulation of its substrate, the fatty substance glucocerebroside, in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain.

Signs and symptoms

* Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml. * and white blood cells and platelets, leading to anemia, neutropenia and thrombopenia (with an increased risk of infection and bleeding) * Cirrhosis of the liver is rare * Neurology symptoms occur only in some types of Gaucher's (see below): ** Type II: serious convulsions, hypertonia, mental retardation, apnea. ** Type III: myoclonus, convulsions, dementia, ocular muscle apraxia. * . * Yellowish-brown skin pigmentation * No cardiac, renal and pulmonary signs

Diagnosis

In populations with high rates of carriage (Ashkenazi Jews and Norrbotten Swedes), some family members of the index patient may already have been diagnosed with Gaucher's. Truly sporadic cases may suffer diagnostic delay due to the protean symptoms. Biochemical abnormalities: high alkaline phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin levels. The diagnosis is ... [ Read More ]

External Resources

Molecular Genetics Testing Laboratory: Ashkenazi Jewish Genetic Disease Screen - Information about a test for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia.

Gaucher Disease - A description of this disease and who gets it. A number to call for possible free testing.

Gaucher Disease - Information for patients, relatives, doctors and researchers from an independent charity. Over two hundred pages for use by patients and doctors.

European Gaucher Alliance - Information about this international organization and the disease itself.

Gaucher Disease: Current Issues in Diagnosis and Treatment - National Institutes of Health Technology Assessment Conference Statement February 27-March 1, 1995. To provide physicians with a responsible assessment of the diagnosis and treatment of Gaucher disease.

Children with Gaucher's Disease - Information by Dr Ed Wraith about this disease in children.

Comprehensive Gaucher Treatment Center - Provides clinical evaluations for the diagnosis and treatment of patients with this disease. Information about the disease and the facility.

Gaucher Disease: Diagnosis and Treatment - Discussion on the different forms of this disease, who is at risk, how do people get it, how it is diagnosed, the treatment and cure.

Gaucher Registry - Longitudinal, observational program that tracks the health outcomes of routine clinical practice for patients with Gaucher disease.

Gaucher's Disease - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

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