A Sneak Peak into Gaucher's Disease
So, what is Gaucher's Disease? Gaucher's disease is the lack of glucocerebroside enzyme. (in other words, lack of a type of protein) This enzyme causes a mutation in our DNA. Without it, a fat takes over in the body and can cause many problems in the future.
Problems? What are they?
- enlargement of the liver and spleen
- anemia
- nose bleed
- reduced platelets (causing easing bruising and long clotting)
- bone pain
- deterioration
- osteoporosis
- bone infraction lead to damage to the shoulder/hip joint
- fatigue
- seizures
Symptoms may vary depending on the types of Gaucher's disease.
Types? What are the types?
There are 3 different types. Type 1, 2, and 3. Each type is characterized by the brain stem abnormality. (the brain stem sits at the bottom of the brain that's responsible for breathing, swallowing, body temperature, and more)
Among the Ashkenzai Jewish population, Gaucher disease is the most common. Type 1 Gaucher's disease is common in the Ashkenazim area. It occurs in the later years of adulthood. Type 2 occurs rarely and usually fatal during the first three years of life. Type 3 is similar to Type 1, occurring during adulthood. It is common in the Northern Swedish region of Norbotten.
Although Gaucher's disease is considered to be a rare disease but it can cause a lot of damage to people who have it.The video below explains information and risks of Gaucher's disease.
Among the Ashkenzai Jewish population, Gaucher disease is the most common. Type 1 Gaucher's disease is common in the Ashkenazim area. It occurs in the later years of adulthood. Type 2 occurs rarely and usually fatal during the first three years of life. Type 3 is similar to Type 1, occurring during adulthood. It is common in the Northern Swedish region of Norbotten.
Although Gaucher's disease is considered to be a rare disease but it can cause a lot of damage to people who have it.The video below explains information and risks of Gaucher's disease.
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