Gaucher’s disease (go-SHAY) is the result of the build-up of certain fatty substances in certain organs, especially in the spleen and liver. These organs grow larger and can interfere with their function.
Fats can also build up in bone tissue, weakening the bone, and increasing the risk of fractures. If the bone marrow is affected, it can affect the ability of your blood to clot.
An enzyme that breaks these fats down doesn’t work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.
Gaucher’s disease is a hereditary disease and is most common among Jews of Central and Eastern European (Ashkenazi) origin. Symptoms can appear at any age. Glucocerebrosidase deficiency Treatment in Hyderabad
There are different types of Gaucher disease, and the signs and symptoms of the disease vary widely, even within the same type. Type 1 is by far the most common.
Siblings, including identical twins, with the disease can have varying degrees of severity. Some people with Gaucher disease have mild or no symptoms.
Most people with Gaucher disease have the following problems to varying degrees:
- Abdominal discomfort. Since the liver, and especially the spleen, can enlarge significantly, the stomach can expand painfully.
- Skeletal abnormalities. Gaucher disease can weaken bones and increase the risk of painful fractures. It can also affect the blood supply to your bones, which can cause parts of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can make you feel very tired. Gaucher disease also affects the cells responsible for clotting, which can lead to easy bruising and nosebleeds. Glucocerebrosidase deficiency Treatment in Hyderabad
- Autosomal recessive inheritance model
- Autosomal Recessive Inheritance PatternOpen Context Dialog
- Gaucher disease is inherited through a pattern called autosomal recessive. Both parents must have an altered (mutated) Gaucher gene in order for their child to inherit the disease.
People of Jewish (Ashkenazi) descent from Eastern and Central Europe are at a higher risk of developing the more common variant of Gaucher disease.