BGDD

The symptoms of each of the three identified types of Gaucher disease are diverse. The most prevalent type, type 1, can manifest in infancy or age and has no negative effects on the neurological system. Many Type 1 Gaucher disease patients have symptoms that are so mild that they never experience any complications from the condition. The nerve system is affected by types 2 and 3. Type 2 produces severe health issues that first appear in infancy, but Type 3 advances more slowly than Type 2. In addition, there are other forms that fall outside of the three Types and are difficult to classify.

1. weight loss a loss of appetite or nausea fatigue blood in stools red, sore eyes joint pain red patches of tender skin fever anemia weight loss a loss of appetite or nausea fatigue blood in stools red, sore eyes joint pain red patches of tender skin fever anemia
2. Anemia. People can have a severe form of anemia called acute hemolytic anemia. Jaundice. When your skin turns yellow. Dark-colored pee. Fatigue. Being more pale than usual. Having a rapid heart rate. Feeling short of breath. Having an enlarged spleen.
3. Enlargement of the liver and spleen (hepatosplenomegaly). A low number of red blood cells (anemia). Easy bruising caused, in part, by a low level of platelets (thrombocytopenia). Bone disease (bone pain and fractures).
4. 1.Enlargement of the liver and spleen (hepatosplenomegaly). 2.A low number of red blood cells (anemia). 3.Easy bruising caused, in part, by a low level of platelets (thrombocytopenia). 4,Bone disease (bone pain and fractures).
5. Enlargement of the liver and spleen (hepatosplenomegaly). A low number of red blood cells (anemia). Easy bruising caused, in part, by a low level of platelets (thrombocytopenia). Bone disease (bone pain and fractures).
6. Enlargement of the liver and spleen (hepatosplenomegaly). A low number of red blood cells (anemia). Easy bruising caused, in part, by a low level of platelets (thrombocytopenia). Bone disease (bone pain and fractures).

The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of Gaucher disease is suspected in individuals who have bone problems, enlarged liver and spleen (hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platlets or signs of nervous system problems. Laboratory testing involves a blood test to measure the activity level of the enzyme glucocerebrosidase. Individuals who have Gaucher disease have very low levels of this enzyme activity. A second type of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA testing can be done prenatally. A bone marrow or liver biopsy is not necessary to establish the diagnosis.

Gaucher disease cannot be prevented.

For people with Gaucher disease symptoms, enzyme replacement therapy is now a viable option for treatment. Every two weeks, an intravenous infusion of an altered form of the enzyme glucocerbrosidase is administered as part of the treatment. While many symptoms of Gaucher illness can be reversed with enzyme replacement therapy, the involvement of the neurological system is unaffected. Oral therapies are among the many additional therapies that are at varying stages of development.