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HEALTH DISEASES-AND-CONDITIONS Causes, types and treatments associated with Gaucher Disease

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:

• Spleen
• Lungs
• Liver
• Bone marrow
• Brain

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
• Fatigue
• 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)
• Seizures
• 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


About author:
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, Penegra, Purchase Zenegra 100mg Online, Silagra.
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