An Overview On Gauchers Disease and Its Management

Gauchers disease affects both males and females. It is a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the spleen and liver, bone lesions and sometimes neurological impairment. About 1 in 100 people in the United States are carriers of common type of Gauchers disease. It is classified in to three types. Type 2 Gaucher disease is a very rare, rapidly progressive form of gaucher disease which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones. Formerly called infantile gaucher disease, it is characterized by severe neurological (brain) involvement in the first year of life. The accurate diagnosis is mainly based upon enzyme and genetic testing. There are several treatment for Gauchers disease. The glucocerebrosidase genes are carried on autosomal chromosome number 1. If a person has at least one normal glucocerebrosidase gene, then the person will not develop Gaucher disease. The symptoms of Gauchers disease are classified based on organ systems like heart, liver, skin, eyes, haematological and lymphatic. Psychological counseling is important for patients and families with GD given the likelihood of incapacitating symptoms and chronic nature of the disease.