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Gaucher's Disease
Gaucher's disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.Gaucher's is a Lysosomal storage disease - a patient with a lysosomal storage disease lacks an Enzyme that eliminates unwanted substances within the cells. The enzymes exist in lysosomes, sac-like structures inside the cells. Lysosomes are the recycling centers of cells - they break down unwanted substances into simpler ones so that the cell can use them to make new material or expel them. If the enzyme that breaks down the waste product is lacking, waste builds up in the cells, eventually undermining its proper function, this can lead to serious health problems. We know of atleast 40 lysosomal storage diseases.

Causes
Gaucher's disease is caused by a recessive mutation of the gene called GBA, located on chromosome 1. The GBA gene tells the body to produce glucocerebrosidase. Glucocerebrosidase, an enzyme (protein), breaks down a type of fat (lipid) known as glucosylceramide into sugar and simple fats, which the body uses for energy. If the GBA gene is faulty there is a deficiency of the enzyme glucocerebrosidase, which leads to an excessive accumulation of glucosylceramide, which starts to collect inside the cells of the brain, bone marrow, lungs, spleen and liver, and interferes with their normal functioning.

Type 1:-
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the Brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Gaucher's (Gaucher) disease, also known as Glucocerebrosidase deficiency, occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Patients with Gaucher's disease have a hereditary deficiency of glucocerebrosidase, an enzyme that helps the body process glucosylceramide. Glucosylceramide is also known as glucocerebroside.When glucocerebrosidase is faulty, the lipid (fat) glucosylceramide builds up, especially in the macrophages. Macrophage is a type of white blood cell.Approximately 1% of the US population are carriers for Type 1 Gaucher's disease.Symptoms of type 1 can appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is mild and you won't notice any problems.

Some symptoms you might have are:


 * Easy bruising
 * Nosebleeds
 * Fatigue
 * Enlarged spleen or liver, which makes your belly look swollen
 * Bone problems like pain, breaks, or arthritis

Type 2:-
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy.Gaucher disease type 2 (also called acute infantile neuronopathic Gaucher disease) has the earliest onset of all Gaucher disease types. Symptoms first become apparent within the first 3 to 6 months of life. It is fatal, usually causing death before 2 years of age.The symptoms include:
 * Slow back-and-forth eye movement
 * Not gaining weight or growing as expected, called "failure to thrive"
 * High-pitched sound when breathing
 * Seizures
 * Brain damage, especially to the brain stem
 * Enlarged liver or spleen

Type 3:-
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.An infant with this form usually lives only a few days. These symptoms are overwhelming for a newborn.

Perinatal lethal Gaucher's disease. Cardiovascular Gaucher's disease (type 3C). This is rare and mainly affects your heart. You might have symptoms like:
 * Too much fluid in the baby's body before or soon after he's born
 * Dry, scaly skin and other skin problems
 * Enlarged liver and spleen
 * Severe brain and spinal cord problems
 * Hardening of the heart valves and blood vessels
 * Bone disease
 * Enlarged spleen
 * Eye problems

Treatment
For patients with Type 2 Gaucher's Disease enzyme replacement therapy is available, but there is no effective treatment for the severe brain damage that comes with this condition. Some patients with mild Type 1 may not need any treatment at all, but should be periodically monitored. For patients with Type 1 or 3 Gaucher's disease, the following therapies may help: Enzyme replacement therapy (ERT) - the deficient glucocerebrosidase is replaced with intravenous recombinant glucocerebrosidase (imiglucerase). ERT is more effective for most patients with Type 1, and some with Type 3. ERT can help prevent hepatomegaly (enlarged liver) and splenomegaly (enlarged spleen), improve bone density as well as blood platelet count. ERT does not treat problems with the nervous system (brain damage) in patients with Types 2 and 3.

According to the National Gaucher Foundation, Gaucher's disease is present in approximately 1 in every 20,000 live births. The US Food and Drug Administration(FDA), however, says between 1 in 50,000 and 1 in 100,000 people have Gaucher's disease.