gaucher disease type 4 natural cures |
gaucher disease type 4 Definition
First described in 1882 by French physician Philippe Gaucher, Gaucher disease is one of today's most common lysosomal storage diseases. As a result of the lack of the enzyme glucocerebrosidase, fatty materials accumulate in the brain, bone marrow, liver, lung, spleen and the kidneys. This disease is characterized by autosomal recessive inheritance, and as such, is equally likely to affect both male and female individuals.
gaucher disease type 4 Diagnosis
As the disease is an autosomal recessive inheritance disease and thus hereditary, any person suspected of having the disease will likely have a positive diagnosis if other relatives were previously positively diagnosed or suspected of the same before. For those who do not have relatives who have Gaucher, difficulty in diagnosis may arise because of the variety of symptoms that one person may or may not manifest.
gaucher disease type 4 Treatment
The treatment for Gaucher disease costs $550,000 annually for a single patient, and is done through the intravenous introduction of the drug Cerezyme. This treatment is to be carried on for the duration of the patient's life. Another medication, Miglustat, was approved in 2003.
gaucher disease type 4 Symptoms and Signs
People who suffer from Gaucher disease will likely first show signs of brown skin pigmentation, and also signs of having developed anemia. The anemia is a result of another symptom, hypersplenism, which is the destruction of both red and white blood cells. There may also be swelling of the lymph nodes and, internally, the spleen. People with Gaucher disease are likely to develop osteoporosis, and may experience pain from bone lesions. Cardiac, pulmonary, and renal signs may also be absent.
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