In 1882, a French physician named Philippe Charles Ernest Gaucher first described a clinical syndrome in a 32-year-old woman whose liver and spleen were enlarged. The most common symptoms of Gaucher Disease are enlargement of the liver and spleen, anemia, reduced platelets (resulting in easy bruising and long clotting times), bone pain ("bone crises"), bone infarctions often leading to damage to the shoulder or hip joints, and a generalized demineralization of the bones (osteoporosis). The weakening of the bones can then lead to spontaneous fractures. The course of the disease is quite variable, ranging from no overt symptoms to skeletal problems, liver or spleen damage, bleeding, or other problems. There are indications that persons with Gaucher Disease have an increased cancer risk. The characteristics just listed refer primarily to the Type 1 form of the disease. This is often called the adult form, although the cause is present from the time of conception. Type 1 Gaucher Disease occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population (the Jews of Eastern European ancestry). Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people.

There are other forms of Gaucher Disease which, in addition to the liver, spleen, and bone complications characteristic of Type 1 Gaucher Disease, also result in acute neurological symptoms. Type 2 Gaucher Disease, called the acute neuropathic form, is characterized by brainstem abnormalities and is usually fatal during the first three years of life. Type 2 Gaucher Disease shows no ethnic predilection, and occurs rarely, with an incidence of 1 in 100,000 live births. Type 3 Gaucher Disease, the chronic neuropathic form, also shows no ethnic predilection, and is estimated to occur in 1 in 50,000 live births. The neurologic symptoms of Type 3 Gaucher Disease are slowly progressive and appear later in childhood than the symptoms of Type 2 Gaucher Disease. Neurologic symptoms of Type 3 Gaucher Disease include incoordination, mental deterioration, and myoclonic seizures. There is a subclassification of Type 3, called Norbottnian Gaucher Disease, named for the region in Sweden where it has been identified. The slowly progressive neurologic symptoms of Norbottnian Gaucher Disease may not occur until early adulthood.

Gaucher Disease is an autosomal recessive trait, meaning that it is passed from healthy carrier parents to their children. When both parents are carriers, each of their children has a 25% risk for the disease, a 50% risk for being a carrier and a 25% chance for neither having the disease nor being a carrier. Genetic counseling is available to explain how Gaucher Disease is inherited, describe the tests that can identify carriers, and help families deal with the many emotions they face.

Is There An Effective Treatment For Gaucher Disease?

A few years ago, enzyme replacement therapy became available as the first effective treatment for Gaucher Disease. The treatment consists of a modified form of the glucocerebrosidase enzyme which is given intravenously over one to two hours, usually every two weeks. Enzyme replacement therapy can stop progression and often reverse the symptoms of Gaucher Disease. People with mild Gaucher Disease may not need to be put on treatment.