Information On Gaucher's Disease, Causes Of Gaucher's Disease, Symptoms Of Gaucher's Disease, Diagnosis Of Gaucher's Disease, Treatment Of Gaucher's Disease

INFORMATION ON GAUCHER'S DISEASE

Gaucher's disease is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. Gaucher disease is an inherited, enzyme deficiency, disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. This disease affects males and females equally. It is the most common lysosomal storage disease. It is named after the French doctor who originally described it in 1882.The most common form of Gaucher disease (Type 1) affects 1 in 100,000 of the general population although it is estimated that not all those who have Gaucher disease will show symptoms. In the rarer Type 2 and Type 3 Gaucher disease, neurological problems will occur.

SYNONYMS OF GAUCHER'S DISEASE

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CAUSES OF GAUCHER'S DISEASE

Gaucher's disease is caused by a gene defect received from both parents and is the most common genetic disease. This mutation results in a deficiency of a specific enzyme in the body required to break down a fatty substance known as glucocerebroside which accumulates in the spleen, liver, lungs, bone marrow, and sometimes in the brain. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. It is the accumulation of the lipids that can no longer be degraded which causes cells to have an abnormal, wrinkly appearance. These cells are gaucher cells, often found in the spleen, liver, and bone marrow.

SYMPTOMS OF GAUCHER'S DISEASE

Symptoms and sins are:

1 Hypersplenism that is increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia
2 Osteoporosis that is 75% develop visible bony abnormalities due to the accumulated glucosylceramide.
3 There may be Yellowish-brown skin pigmentation, No cardiac, renal and pulmonary signs

Neurological symptoms of Gaucher's are:
Type II: serious convulsions, hypertonia, mental retardation, apnea.
Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. Persons affected most seriously may also be more susceptible to infection.

DIAGNOSIS OF GAUCHER'S DISEASE

The diagnosis of Gaucher Disease is confirmed by laboratorial tests. Following test may be done:
1 Bone Marrow Biopsy- False negatives can occur because Gaucher's cells are sparsely distributed. Heterozygous can not be identified by this test.
2 Leukocyte and Beta-glucerebrosidase Enzyme Assay- 30% lower of beta glucocerebrosidase activity at pH 4.0 compared with normal is diagnosis of Gaucher Disease. This test is important because it can identify patient enzyme activity, which is necessary to introduce an appropriated therapy.
3 DNA-Based Mutation Analysis- DNA analysis is of great value for all individuals with glucocerebrosidadse deficiency to confirm diagnosis, but is not predictive of clinical course.

The diagnosis is made with genetic testing of the B-glucosidase gene. As there are numerous different mutations, sequencing of the gene is sometimes necessary to confirm the diagnosis. Prenatal diagnosis is available, and is useful when there is a known genetic risk factor.

TREATMENT OF GAUCHER'S DISEASE

Enzyme replacement therapy is used to replace the bone marrow transplantations as the preferred method of ultimate treatment. This form of treatment requires regular infusion of the enzyme into the bloodstream through the veins. This treatment must be continued chronically, with frequent infusions and dosage adjustments according to response, and has significant expense. Orthopedic surgery, including total joint replacements are options for patients with gaucher disease and collapse of the hip or shoulder joints. Future treatments might include replacement therapy with manufactured longer-acting glucocerebrosidase enzymes that could be given by injection into the fat layer of the skin instead of into the veins