Gaucher’s disease is a rare lysosomal storage disorder that affects approximately 10,000 people worldwide. This disorder comes about when there aren’t enough glucocerebrosidase enzymes present to properly breakdown fat molecules and they begin to accumulate. This accumulation occurs within cell walls, and when it becomes too much, the cell swells to much larger than its normal size. These enlarged cells begin to cause problems throughout the body.
How Do You Contract Gaucher’s?
This condition is an inherited disease, and there are three known types. The first, and most common, affects one person in every 40,000 to 60,000, and does not affect the brain or nervous system. Patients with Type 1 Gaucher can experience no symptoms at all, while others develop symptoms so severe that they can be life-threatening. Type 2 Gaucher, affecting 1 in 100,000, is rarer than Type 1, and also much more dangerous. Most patients diagnosed with Type 2 do not live past the age of two. Those with Type 3 Gaucher, one person in every 100,000, will experience neurological symptoms; however, they will survive well into adulthood.
What Are the Treatment Options?
While those who are afflicted by Type 2 Gaucher’s disease are mostly untreatable, due to the short life span, there is highly effective enzyme replacement therapy available for those with Type 1 and Type 3. Common symptoms of Gaucher’s include increased size of liver and spleen, skeletal abnormalities and various neurological complications. Enzyme replacement can decrease the size of the liver and spleen, and reduce skeletal abnormalities, and bone marrow transplantation can be done to help other non-neurological symptoms, though this is a very dangerous procedure.
Despite some of the more serious characteristics of Gaucher’s disease, prognosis for the majority of patients is very good and most will go on to lead full active lives.
Sources:
Cerezyme: http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm
National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm
Mayo Clinic: http://www.mayoclinic.com/health/gauchers-disease/DS00972