How does Gaucher's Disease affect the person who has it?

Answer 1

Gaucher's is inherited as an autosomal recessive disease, and results in abnormal storage of glucocerebroside in the reticulo-endothelial system, that is, phagocytes in the liver, spleen, bone marrow and lymph nodes. There are three types of Gaucher's disease.

Type 1 begins in childhood with very enlarged spleen and deficiency of many lines of blood cells due to infiltration of the bone marrow. Growth is affected. There is often episodic pain in the bones. Enzyme replacement therapy, bone marrow replacement and gene replacement therapy may offer hope. Many affected persons live into adulthood.

Type 2 begins between 6 - 18 months of age and results in massively enlarged spleen but also with severe deterioration of the brain and nervous system.Death usually results by age two.

Type 3 also begins with spleen and liver enlargement, but also involves the brain and nervous tissue, resulting in imbalance, seizures and developmental regression.

The major medical centers across the country often have centers specializing in treatment of patients with Gaucher's disease.

Answer 2

Gaucher's disease is a very rare genetic disease in which the body lacks an enzyme needed to break down certain waste substances within cells. As a result, these byproducts tend to build up in various organs, impairing their function. Gaucher's disease affects the digestive system because a certain waste substance (called glucosylceramide) accumulates in the liver and spleen. Over many years, this build-up leads to scarring and cirrhosis in the liver. Other complications may include bleeding from abnormal blood vessels in the esophagus, accumulation of excess fluid in the abdomen and extremities, and mental changes because of the liver's inability to detoxify substances. In addition, the spleen may expand to a very large size, ultimately resulting in rupture and severe intra-abdominal bleeding. Gaucher's disease also commonly involves the skeletal system, leading to bone deformities and a predisposition to fractures. Over the last 10 years much has been learned about Gaucher's. Using genetic engineering, it is now possible to produce the missing enzyme in the lab. When this lab-produced enzyme is given to patients with Gaucher's, it can lead to improvement. Unfortunately, this enzyme-replacement therapy is extremely expensive. Patients with Gaucher's should definitely be treated and followed by a doctor who has a great deal of experience in the management of this very rare and potentially fatal disease.
I add a link which discusses this disease-

http://www.gaucher.org.
uk/living.htm

Hope this helps
Matador 89

Answer 3

-Type 1 disease is most common. It is characterized by bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most prevalent in the Ashkenazi Jewish population, affecting anywhere from 1 out of 500-1,000 births.
-Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
-Type 3 disease typically is marked by primary neurologic involvement and runs a slower, more favorable course.
-Type 4 is a marked by dry, rough, scaly skin and severe edema upon birth, and is deadly.
-Type 5 is a cardiovascular form characterized by calcification of heart valves, a mildly enlarged spleen, and eye problems.

Answer 4

Aids/Hiv-unprotected sex, weak immune system,use protection Heart diease/diabetes- Bad diet, over indulgence, sweats,high blood pressure, low calorie diet, excercise a bit more. There are many dieasese and illnesses that would affect people lifestyles you can't name them all. IF this is an assignment due do your own research!!!

Answer 5

sporms