Gaucher Disease Detailed Information

Gaucher's disease arises when sure unsafe fatty substances construct to excessive levels in your liver, spleen, lungs, bone marrow and, less normally, your brain. This buildup of fatty material in tissues interferes with the normal running of organs, and may cause organ growth and bone pain. Gaucher disease is an inherited metabolic disorder in which unsafe quantities of an oily substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.

Gaucher's disease can occur at any age in life, and affects males and females approximately equally. Signs and symptoms of Gaucher's disease can vary widely from one person to another. Bone pain or a bone fracture is often the first symptom. Gaucher's disease symptoms may include excessive fatigue, yellow spots in your eyes (pingueculae), anemia. Other symptoms are skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures, abnormal eye movements, harmed function of your lungs and kidneys and brownish coloring of your skin. There are three types of Gaucher disease.

Gaucher's disease Type 1 is by remote the most common. It generally bruises simply and experience tiredness due to anemia and low blood platelets. They also have an expand liver and spleen, skeletal disorders, and, in several instances, lung and kidney destruction. There are no signs of brain involvement. Symptoms can emerge at any age. In type 2 Gaucher disease, liver and spleen enlargement are apparent by 3 months of age. Patients have wide and progressive brain damage and usually die by 2 years of age. In Type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent.

Gaucher disease is one of some lipid storage diseases. Gaucher's disease has no heal. Treatment for types 1 and 3 comprise medicine and enzyme replacement therapy, which is generally very useful. Blood transfusion may assist some anemic patients. Other patients may need joint replacement surgery to advance mobility and quality of life. Other treatment choices include antibiotics for infections, antiepileptic for seizures, bisphosphonates for bone lesions, and liver transplants. Substrate reduction therapy may prove to be effective in stopping Type 2, as it can cross through the blood barrier into the brain.