Gaucher’s Disease

Gaucher’s Disease is an autosomal metabolic disorder. This means that it is inherited from both parents. For a child to develop the disease both the mother and the father must to carry the necessary gene. If in fact the child inherits the disease he or she will experience problems with the liver, spleen, lungs, bone marrow, and in some cases the brain. The disease is caused by excessive amounts of a fatty substance called glucocerebroside. Glucocerebroside accumulates in the organs when there is a deficiency of the enzyme, glucocerebrosidase. This particular enzyme helps break down glucocerebroside. Therefore, if there is a lack of the enzyme, the lipid begins to accumulate, and results can be fatal.

There are three types of this disease. Type 1 is called Adult, this is the most common phenotype, and it typically affects adults and Ashkenazi Jews. Patients with this type usually experience fatigue due to anemia, decreased blood platelets, weakening and pain of the skeleton, lung and kidney impairment and enlargement of the spleen and liver. There are no signs of brain damage with this type. Next, there is type 2, which is called infantile. Infants who are affected by this disorder will experience liver and spleen enlargement by three months of age. Progressive brain damage is severe in this disease as well as seizures and an abnormal gait. Due to the extensiveness and severity of type 2, death typically occurs by age two. Type 3 Gaucher’s disease is characterized as juvenile, and occurs in children and adolescents. Symptoms are similar to type 1; however, liver and spleen involvement develop gradually. Brain association is gradual and seizures are mild, if they become apparent.

To determine if someone has Gaucher’s disease, health care professionals will look at the family history. If both parents carry the gene, the child has a 50 percent chance of developing the disease. To confirm the diagnosis, a physician may take a white blood cell sample to look for decreased enzyme activity. There is no cure for Gaucher’s disease; however, enzyme replacement therapy can be used to reduce liver and spleen enlargement. Enzyme replacement therapy also improves blood counts. An oral medication called Miglustat (Zavesca) is also used to inhibit the production of glucocerebroside. Although the preceding treatments are beneficial to both type 1 and type 3 disorders, there is currently no treatment for the associating brain damage.

References

Kari, Carol.