Gaucher Disease

Gaucher disease, what is that?
Gaucher is a metabolic disease. It happens when our body cannot terminate 'trash' that normally sholud be 'broke out'into pieces, but it still remains inside.It happens because of lack of Enzym Glucocerebricidase. Later, this 'trash' will spread bad effects to our body such as Splenomegaly, Hepatomegaly, Anemia, bone pain, bone that easy to fracture, or even developmental delay.
Gaucher disease is inherited disease, most of patient are Ashkenazi Jews. There are three types of Gaucher disease. Type 1, type 2 and type 3. Those are distinguished by their clinical features, course, and ethnic predilection.

The clinician will diagnose Gaucher disease by doing some investigations such as Enzym Analysis, Mutation Analysis, Bone Marrow Analysis, or could be prenatal analysis if you were high risk person (has Askenazi Jews heritaged gen)


Treatment of Gaucher Disease
Gaucher disease is treated by some methods such as Therapeutic method, Enzym replacement theraphy, Substrate reduction theraphy, etc.
1. Therapeutic methods is The major goals of treatment are elimination of symptoms, prevention of irreversible damage, and improvement in the overall health and quality of life.
2. Enzym replacement theraphy is adding enzym glucocerebroside to your body. Adverse effects of this treatment are pruritus, flushing, urticaria/angioedema, chest discomfort, respiratory symptoms, cyanosis, and hypotension. Example of this medicine is Imiglucerase (Cerezyme®), produced by recombinant DNA technology is currently marketed for use in enzyme replacement therapy for GD.
3. Substrate reduction therapy is an option when you cannot receive Enzym replacement theraphy because of its adverse effects. Example of this medicine is Miglustat (N-butyldeoxynojirimycin, NB-DNJ, OGT-918, Zavesca®), an inhibitor of glucosylceramide synthase, has been approved in the United States for restricted use in adults with GD who are medically unable to receive ERT.