Gaucher’s Disease
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Gaucher’s disease is a genetic disorder, which leads into the deficiency of an enzyme called glucocerebrosidase, that results in the inability of the body to break down a chemical called glucocerebriside, thus resulting in its storage inside the macrophage cells and hindering in their proper function. Due to this, Gaucher’s disease is also called “the storage disease.”

These cells can accumulate in any part of the body like such as the liver, spleen, lungs, lymph system and bones, and get flushed out. It can get serious if they start accumulating in the nervous system of the person. People suffering from Gaucher’s disease are also open to catching a lung infection. Both males and females are equally affected by this disease as it has an autonomic recessive inheritance tendency.

Types of Gaucher’s Disease

There are usually three types of Gaucher’s disease namely Type 1, type 2 and type 3. Type 1 is most commonly found and occurs in almost 1 in 50,000 live births. It may begin early in life or in adulthood.

The symptoms are enlarged liver and spleen, which can rupture causing further complications. Type 2 is the most severe form of this disease and many children do not survive past infancy. It begins early in infanthood and shows symptoms like an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders, spasticity, seizures, limb rigidity, and a poor ability to suck and swallow. It is found in almost 1 in 100,000 live births.

Rapid deterioration of the organs and nervous system is observed and it does not have a very high survival rate. Type 3 can begin at any time, in childhood or adulthood, and is seen in 1 in every 100,000 live births. Unlike Type 2, it is characterized by slow but progressive neurological symptoms which are milder in nature. Symptoms observed in this type of Gaucher’s disease are enlarged spleen and/or liver, seizures, poor coordination, skeletal irregularities, eye movement disorders, blood disorders including anemia and respiratory problems.

Symptoms of Gaucher’s Disease

Enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions causing pain, severe neurological complications, swelling of lymph nodes and adjacent joints, distended abdomen, a brownish tint to the skin, anemia, neutropenia and thrombocytopenia, low blood platelets and yellow fatty deposits on the sclera are all few of the visible and dominant symptoms of the Gaucher’s Disease.

The Type of Gaucher’s Disease also decides on the symptoms which will show up in a person. Fatigue, pigmentation of the face and legs, easy bruising and a tendency to bleed are also few of the common symptoms of this disease. This disease usually results in the malfunction of the organs which it is affecting. Neurological symptoms can be observed in Type 2 and Type 3 of his disease, like serious convulsions, hypertonia, mental retardation, apnea, cyclones, dementia and ocular muscle apraxia.

Diagnose of Gaucher’s Disease

Gaucher’s Disease is an inherited disease, where both the parents need to pass on the abnormal gene. A blood test can be performed in order to check for the activity of the glucocerebrosidase enzyme.

Once we check the level of activity of the glucocerebrosidase enzyme, we can ascertain whether the person has Gaucher’s disease or if he is just a carrier. During pregnancy, one can detect Gaucher’s disease by using amniocentesis and chorionic villus sampling (CVS). Diagnosis can also be made by testing of the β-glucosidase gene.

Treatment of Gaucher’s Disease

So far, no permanent cure has been found for the Gaucher’s Disease. But few treatments have been developed which can help elevate the symptoms of this disease. Enzyme replacement Therapy (ERT), where the enzyme is given intravenously, is one form of treatment which helps in reducing the size of liver and spleen, reducing the skeletal abnormalities and reversing other manifestations f the disease.

However, this treatment is not effective in the Type 2 and 3 of the disease as ERT cannot be used for the brain and its nervous system related problems. The second treatment is the Substrate Reduction Therapy (SRT), which is an oral treatment of a medicine called Miglustat. This therapy is effective amongst the patients for whom we cannot employ ERT.

Other medicine which can be used for treating Gaucher’s Disease is Cerezyme (imiglucerase for injection and costs $550,000 annually and should be continued for life). Another treatment is transplantation of the bone marrow.

However, this treatment is highly risky and thus is not commonly used on the patients. In case the patient is anemic or highly discomfited, one can opt for the removal of spleen via surgery. Blood transfusion is also given to the anemic patients.

Ultimately, gene therapy might be of some help and researches are on to develop this form of treatment in near future.

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#1 - austin - 03/05/2012 - 07:49
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