Gaucher's disease

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Good life, live it well

3 years ago

Gaucher's disease is a hereditary disease caused by the accumulation of fatty substances in the liver and the spleen. This disease is attributed by weak bone formation leading to fractures and poor red blood cell formation due to the accumulation of fats in the bone tissue which distorts the formation of the bone and absorption of calcium in the bone leading to poor bone formation. This Condition is very common in Europe and People affected by this diseases face varying symptoms according to their ages. Children below the age of two are vunerable when they are seen with this condition. That's why it is always advisable to to to pre-natal care to check the health status of your child.

Here are some common symptoms of Gaucher's disease.

Abdominal pains. This is very common in an affected person. Since the fat will accumulate in the liver, the enzyme, Lipase, responsible for the synthesis of fat will be defected and also the accumulation of fat causes the liver and spleen to enlarge causing the abdominal pain.
Pain in the bone. Due to the weak bone formation caused by the accumulation of fat in the bone tissue will prevent calcium phosphate from being absorbed by the bone to enable the bone to be maintained and kept strong. This will lead to bone fractures which will affect the victim and makes the bone liable to damage.
Poor blood clotting. Since the cells which enable blood clotting to occur is found in the bone marrow, the inflammated bone tissue will prevent the cells from being absorbed by the blood plasma for assimilation. As such when a person is cut, it will take a very long time for the wound to heal exposing the area cut to bacteria and further loss of blood.

What to do to know if you have this condition.

Ask yourself some questions about what you are likely to experience.

Am I having abdominal pains?
Is it frequent?
Did any relative of mine die as a result of this?
What diet have I been taking?
Is it affecting my health?
Does my blood clot normally?

You must examine yourself to know all this before you consult your doctor.

What to expect from the doctor.

What are the symptoms and when did it begin?
Is there pain in your abdomen or bones?
Have you noticed that bruising occurs? Any nosebleeds?
What's your family's heritage?
Is there any collection of symptoms that occurred in the family's generations?

Treatment and drugs

For now, there is no cure for Gaucher's disease but there are drugs and medications like Osteoporosis drugs, Zavensca and therapies like Enzyme replacement therapy that reduces the risk of this condition.

Effects.

For some of the drugs, the common side effects are weight loss and diarrhea.

It is very important to go for check-up every 2-3 months at least to check your health status.