Gaucher Disease: Genetic Complications of the Jewish Population

For pregnant women, living healthy is crucial to ensuring optimal health of a fetus and healthy newborn. For some women, however, predisposition to genetic defects makes for a complication during and after pregnancy leading to complications in the newborn child. Of these genetic defects, some women, especially of Jewish decent, will pass a genetic metabolic disorder to children known as Gaucher Disease. Understanding the implications of Gaucher Disease on a newborn will provide for a more healthy childhood development period.

As a genetic disorder, Gaucher Disease creates an impairment of the natural metabolic processes of the body. Most commonly found in the Jewish individuals descendent from Eastern Europe, Gaucher Disease is named for a French physician, Philippe Charles Ernest Gaucher who first recognized the genetic metabolic disorder in the late 1800s.

As a metabolic genetic disorder, Gaucher Disease creates a significant health complication as it creates an abundance in fatty lipids which tend to accumulate in the bone marrow. When this accumulation of fatty lipid results, in Gaucher Disease patients, the condition results in a blood disorders, including platelet defects and, as a result, deterioration of bone minerals.

For individuals suffering from Gaucher Disease, symptoms most often exhibit as easy bruising and significant fatigue attributed to low blood platelets. Bones in patients with Gaucher Disease are often weak and brittle leading to an increased risk of fractures and breaks. Additionally, the patient will often suffer from an enlarged liver.

Because Gaucher Disease is attributed to a genetic metabolic disorder, patients suffering from the condition will require enzyme replacement therapy, also know as ERT. Enzyme replacement therapy is often most successful when initiated prior to the onset of significant Gaucher Disease health complications. Unfortunately, for many Gaucher Disease patients, the condition may not be diagnosed until such time as a health complication arises.

Initiating enzyme replacement therapy is most optimal in children with the results seen almost immediately. In adults, treatment is equally effective however administration of enzyme replacement therapy may need to occur over a great length of time to achieve the same effect.

For Jewish women, of Eastern Europe decent, obtaining prenatal genetic counseling is crucially important to diagnosing and early treatment of a potential Gaucher Disease. While the condition is not life threatening, providing a Gaucher Disease child with early enzyme replacement therapy will provide for the most optimal health outcomes in reduction of conditions such as childhood anemia, blood clotting and bone disorders.