Gaucher's disease

Gaucher disease is a disease inherited (genetic) that can damage many different parts of the body. The damage occurs when a type of fat? the glucocerebroside? accumulates in certain organs. Normally, we have an enzyme? glucocerebrosidase? eliminating this harmful fat, but people with Gaucher disease do not produce enough of this enzyme. Gaucher disease usually causes a volume increase of the liver and spleen (splenomegaly and hepatomegaly, respectively), a low red blood cell count (anemia) and platelets (thrombocytopenia), lung disease, bone disease and sometimes disease brain.

There are three basic types of Gaucher disease. The type 1 causes virtually all of the symptoms listed above with the exception of brain disease. The type 2 and 3 cause all symptoms reported, including the effects on the brain. The disease type 2 is the most serious, with symptoms that start before the age of two. In type 3 Gaucher disease, symptoms may begin before age two, but they are lighter and worsen slowly. In type 1 disease, symptoms usually appear in adulthood.

Gaucher disease is rare, affecting about one person in 100,000. In certain ethnic groups such as Ashkenazi Jews, Gaucher disease type 1 may affect up to one in every 1,000 people. About 90% of patients with Gaucher disease have type 1, which means that this is the most common form.

The three types of Gaucher disease is caused by an alteration or mutation in a gene called ABM, which is responsible for the production of the enzyme glucocerebrosidase. Gaucher disease is an autosomal recessive genetic disorder, meaning that people with the disease inherit two mutations of the gene, one from the mother and one from the father. If no GBA gene normal person can not produce sufficient amounts of glucocerebrosidase to prevent the accumulation of abnormal fat. In cases where the person has only one mutation (inherited from the father or the mother, the other copy of the normal gene) did not develop disease and is called "bearer".

If both parents are carriers of a mutation causing Gaucher disease, each of their children has a 25% probability (ie, 1 in 4) of inheriting the disease. Generally, parents do not know they are carriers of the gene. In some ethnic groups? as Ashkenazi Jews? people are often tested before having children to determine if they are carriers.

Prevention

Gaucher disease occurs when a baby inherit two copies of the gene with the mutation causing this disease, one from each parent. Each country typically has one copy of the mutated gene and thus does not have Gaucher disease. If both parents know they are carriers of a mutation, having been identified genetic change because they belong to an ethnic group in which the disease is frequent or are parents of a child with Gaucher disease, it is possible to detect the disease earlier in the offspring. Genetic testing may be done on the fetus during pregnancy, or in an embryo prior to being deployed. In the latter case, it is necessary to use assisted reproductive techniques. All couples wishing to undergo genetic testing to determine if they are carriers of a genetic mutation causing Gaucher disease should be sent to a query Genetic Counseling.

The care a person with Gaucher disease are the prevention of disease complications.

Treatment

Gaucher disease is caused by low levels of the enzyme glucocerebrosidase, so that the best treatment for preventing the accumulation of glucocerebroside is the enzyme replacement therapy with synthetic enzyme called imiglucerase. The synthetic enzyme is administered intravenously, the intravenous infusion with regular imiglucerase shown to be safe and effective with regard to reversal of low blood cell counts and the increase of liver and spleen. Approximately 10 to 15% of people develop antibodies to enzyme replacement although in most cases remain asymptomatic.

It is available as a new treatment for people who fail to respond to enzyme replacement therapy. This drug, which prevents the formation of glucocerebroside is administered orally (i.e., swallowed) and helps reduce the swelling of the liver and spleen, strengthens the bone and can also improve other symptoms.

People with Gaucher disease type 1 and type 3 live longer than people with type 2 disease. Over time, people with type 1 and 3 may become resistant to the effect of drugs, in which case it can be recommended in bone marrow transplantation.

Other treatments may help relieve the symptoms of Gaucher disease, but will not act on the cause. For example, surgery to remove the spleen (splenectomy) is useful in some patients, once an enlarged spleen may destroy the platelets. Blood transfusions can treat severe anemia and bone pain can be treated with painkillers. Sometimes you need a joint replacement surgery. Medicines that can help increase bone density, the most frequently used are the bisphosphonates, such as alendronate, ibandronate and risedronate.