What is Gaucher Disease?

Posted by Melissa

Gaucher Disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. It is also the most common genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry), with a carrier frequency of 1 in 10 (Dr. John Barranger and Dr. Ed Ginns 1989). This panethnic disease involves many organ systems, such as liver, spleen, lungs, brain, metabolism and bone marrow.

Gaucher Disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Carrier status can be detected through blood or saliva to identify potential carriers of the Gaucher gene. Gaucher disease can be diagnosed early through a blood test. Fortunately, effective treatments are available for some variants of the Disease.

Prevalence

Gaucher Disease is an inborn error of metabolism. Inborn metabolic disorders are those conditions resulting from a specific malfunction in one or more of the body’s many individual chemical processes. Although there are at least 34 mutations known to cause Gaucher Disease, there are 4 genetic mutations which account for 95% of the Gaucher Disease in the Ashkenazi Jewish population, and 50% of the Gaucher Disease in the general population. These can be identified through a blood test.

The carrier rate for the mutations which cause Gaucher Disease may be as high as 1 in 15 Jewish people of Eastern European ancestry, and 1 in 100 of the general population. Gaucher Disease is transmitted as an autosomal recessive; that is, it occurs equally among males and females, and both parents must carry the mutation for the child to have the disease. If both parents are carriers, then there is a 1 in 4 chance that the child will have Gaucher Disease, a 1 in 2 chance that the child will not have the disease but will be a carrier, and a 1 in 4 chance that the child will neither have the disease nor be a carrier.

Symptoms

The most common symptoms of Gaucher Disease are enlargement of the liver and spleen, anemia, nose bleeds, reduced platelets (resulting in easy bruising and long clotting times), bone pain (“bone crises”), bone deterioration, bone infarctions often leading to damage to the shoulder or hip joints, and a generalized demineralization of the bones (osteoporosis). The weakening of the bones can then lead to spontaneous fractures.

The characteristics just listed refer primarily to the Type 1 form of the disease. This is often called the adult form, although the cause is present from the time of conception. Type 1 Gaucher Disease occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population (the Jews of Eastern European ancestry). Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people.

There are other forms of Gaucher Disease which, in addition to the liver, spleen, and bone complications characteristic of Type 1 Gaucher Disease, also result in acute neurological symptoms. Type 2 Gaucher Disease, called the acute neuropathic form, is characterized by brainstem abnormalities and is usually fatal during the first three years of life. Type 2 Gaucher Disease shows no ethnic predilection, and occurs rarely, with an incidence of 1 in 100,000 live births. Type 3 Gaucher Disease, the chronic neuropathic form, also shows no ethnic predilection, and is estimated to occur in 1 in 50,000 live births. The neurologic symptoms of Type 3 Gaucher Disease are slowly progressive and appear later in childhood than the symptoms of Type 2 Gaucher Disease. Neurologic symptoms of Type 3 Gaucher Disease include incoordination, mental deterioration, and myoclonic seizures. There is a subclassification of Type 3, called Norbottnian Gaucher Disease, named for the region in Sweden where it has been identified. The slowly progressive neurologic symptoms of Norbottnian Gaucher Disease may not occur until early adulthood.

Source: GaucherDisease.org

Permalink | Comments (2) | Apr 28, 2009

2 Responses to “What is Gaucher Disease?”

  1. Guillaume van Renterghem Says:
    August 24th, 2009 at 4:56 am

    Should we assume that 1/15 Ashkenazi Jew carries the gene of Type 1 Gaucher disease and that it is recessive, I think we should get 1/900 Ashkenazi Jew with the disease, not 1/450: (1/(15*15*4))=1/900, not 1/450.

  2. Melissa Ingold Says:
    August 24th, 2009 at 9:34 am

    I don’t really know. This information came from an authority website on Gaucher disease, and to be honest, I really don’t care about the numbers. What I do care about is the fact that my baby has this stinkin’ disease :-(

Leave a Reply