Symptoms of Gaucher Disease

In 1882, a French physician named Philippe Charles Ernest Gaucher (pronounced: go-SHAY) 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, nose bleeds, reduced platelets (resulting in easy bruising and long clotting times), bone pain ("bone crises"), bone deterioration, 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 of an increased risk of multiple myeloma, a type of slow growing cancer in the bones, in older individuals with Gaucher Disease. Because enzyme therapy has only been available since 1991, there are no data regarding this finding in individuals who are receiving the enzyme replacement therapy.

Dr. Philippe Gaucher first described, in 1882, the symptoms now known as Gaucher Disease.

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.