While there is no cure for gaucher disease, a variety of gaucher disease treatments help control symptoms, prevent irreversible damage, and improve the quality of life. Individuals with mild symptoms do not require treatment. Gaucher disease is the result of a buildup of certain fatty substances in certain organs, particularly spleen and liver. It is passed down from parents to children (is inherited), and is caused by a problem with the GBA gene. Which means that each parent must pass along the abnormal GBA gene to their child in order to get Gaucher. There are three types of gaucher disease, such as type 1, type 2, and type 3. The most common type of disease is Type 1, while Type 2 and 3 are not as common as type 1.
The cause of gaucher disease is not completely understood. It is caused by mutations in a gene called GBA, which causes a decrease in activity of an enzyme known as acid beta-glucosidase. This enzyme is necessary to break down fatty chemicals and recycle them. In this disease, fatty materials are deposited in tissues and organs. The resulting inflammatory processes damage these organs and tissues, causing symptoms of the condition. The perinatal-lethal form of gaucher disease affects less than 5% of people and is associated with the death of a child before 3 months of age. It is characterized by fluid accumulation in the chest, abdomen, and skin.
In severe cases, a newborn may suffer from breathing difficulty and pneumonia. In addition, a newborn affected with the disease may develop skin abnormalities and generalized swelling. It may also fail to thrive and die in its first few weeks of life. Gaucher disease treatment depends on the cause of the disease. Type 1 sufferers experience easy bruising, fatigue, and a decreased platelet count. The symptoms may develop at any age, but are most common during childhood and early adulthood. If left untreated, Type 2 and type 3 patients develop complications that include liver enlargement, low blood platelet count, and breathing difficulties. In both cases, enzyme replacement therapy is recommended.
Gaucher disease treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. However, there is no good treatment for the brain damage of type 2 and type 3. Gaucher disease treatment can address some of the symptoms of type 3. The U.S. Food and Drug Administration (FDA) has approved Cerezyme (imiglucerase), VPRIV (velaglucerase alfa), and Elelyso (taliglucerase alfa) for the treatment of the disease. Currently available gaucher disease treatment options include substrate reduction therapy and enzyme replacement therapy. The most common treatment is enzyme replacement therapy, which replaces the deficient enzyme.
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