Causes, types and treatments associated with Gaucher Disease
|By: Fionn Flemming | Aug 20 2013 | 575 words | 458 hits|
Gaucher disease is an uncommon condition passed down through families. People with this disease are lacking or have a problem with a significant enzyme that the body requires. This enzyme is important in the breakdown of a fatty substance in the body. A problem with the enzyme can direct to the buildup of fatty materials in your cells, which can harm your organs and tissues.
This disease is induced by a flaw in a gene called GBA. The GBA gene tells your body to build a protein, or enzyme, called glucocerebrosidase. You need this protein to break down some fatty substance into sugar and a simple fat, which your body utilizes for fuel. Without this protein, a fatty substance and related materials start to collect inside the cells of your:
• Bone marrow
This process intervenes with the way your bone marrow works. It can be life-threatening and even dangerous. The buildup of toxic fatty materials can also induce bone mineral loss. This directs to weak bones that can break easily.
Type 1: This is the most common form and is known as non-neuropathic Gaucher disease because it usually does not affect the brain or spinal cord. It can influence children or adults.
Type 2: This is a life-threatening form seen in babies, generally by age 3 months and is known as acute infantile neuropathic Gaucher disease. It influences the spinal cord and the brain.
Type 3: This type also affects the brain and spinal cord. But it inclines to worsen more slowly than type 2 and is known as chronic neuropathic Gaucher disease.
Perinatal lethal: This is the most serious type. It is seen in fetuses and infants. A baby born with this form usually only lives a few days.
Cardiovascular type: This form mainly influences the heart. It causes hardening (calcification) of the heart valves.
Type 1: Presages of type 1 may appear any time in your life but usually occur by the teen years. Sometimes the disease is mild and you will not notice any symptoms. The presages embrace:
• Bone pain
• Easy bruising
• Enlarged spleen
• Enlarged liver
• Bone abnormalities
Type 2: The symptoms of type 2 occur in infants and are life-threatening. Babies with this form usually die before age 2 to 3. The presages embrace:
• Abnormal eye movements
• Brain damage, especially to brain stem
• Failure to thrive
• High-pitched sound when breathing (stridor)
• Enlarged liver
• Enlarged spleen
Type 3: The symptoms for this type are similar to type 2 but typically occur later in childhood and progress more slowly.
Perinatal Lethal: The symptoms for this type are extremely severe. Babies usually only live a few days. Presages embrace:
• Abnormal buildup of fluid in the baby before or soon after birth (hydrops fetalis)
• Dry, scaly skin and other skin problems
• Enlarged liver and spleen
• Severe brain and spinal cord problems
Cardiovascular type: The presages embrace:
• Bone disease
• Eye problems
• Hardening of the heart valves
• Spleen enlargement
Treatment depends on what type of disease you have.
Enzyme replacement therapy is recommended for all patients with type 1 and those with type 3 that do not have brain damage. This therapy helps to improve abnormal blood counts and reduces spleen and liver enlargement.
There is no effective treatment for type 2 or for people with type 3 that have severe brain damage.
Other treatments may include:
• Bone marrow transplant to reverse type 1 symptoms (rarely done)
• Blood transfusions to aid with anemia
• Joint replacement surgery to help you move better
• Surgery to remove a swollen spleen
Fionn Flemming is a Medical Student and a freelancer who is specialized in writing. He is associated with many Pharmacies for whom he writes articles based on health issues and generic drugs like Forzest, Generic Viagra Pharmacy Online
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