gaucher disease type 3
gaucher disease type 3 Definition
Gaucher disease was first described in 1882 by Philippe Gaucher. Today, this is the most common lysosomal storage diseases, resulting in deficiency in glucocerebrosidase. As a result, fatty material settles in the liver, lung, spleen, brain, bone marrow, and kidneys. Type I which occurs in 1 out of 50,000 live births is most common among Ashkenazi Jews and usually manifest early in life or in adulthood. Type II Gaucher disease occurs in 1 out of 100,000 live births manifests after 6 months of age. Type III manifests in 1 out of 100,000 people as well, and occurs at any point in a person's life.
gaucher disease type 3 Diagnosis
Because the disease is autosomal recessive, the disease is hereditary. It is for this reason that a patient suspected of having Gaucher's disease will likely have a positive diagnosis if other family members have previously diagnosed. Those for whom the occurrence of the disease was sporadic, there may be some delay in the diagnosis because symptoms are protean and may vary as to which will manifest and to what extent.
gaucher disease type 3 Symptoms and Signs
People who suffer from Gaucher disease usually have swollen lymph nodes and enlarged spleens. They display brownish skin pigmentation and signs of anemia. Patients are likely to suffer from osteoporosis, with many in severe pain from bone lesions. An unlikely but nonetheless existing symptom is cirrhosis of the liver. Moreover, people who suffer from Gaucher disease are very much vulnerable to contracting other infections.
gaucher disease type 3 Treatment
Currently, there is drug therapy for Gaucher disease. Cerezyme, an intravenous medication that costsabout $550,000 annually for a patient is administered and is to be carried out for the duration of the patient's life. Another drug, Miglustat, is underway in 2003.