Gaucher Disease
Gaucher disease is an inherited disorder caused by an altered gene, located on chromosome 1, that inhibits the production of an important enzyme, glucocerebrosidase.
This enzyme is necessary for the breakdown of a type of fatty substance that can accumulate in cells, particularly in the spleen, liver, and bone marrow. Anyone who inherits two mutated genes – one from each parent – can develop symptoms of Gaucher, which can appear at any age. Signs and symptoms associated with Gaucher disease may include the following: fatigue, anemia, low platelet count (blood cells that are important in clot formation), easy bruising, frequent nosebleeds, easy bone fractures, enlarged spleen or liver, and bone pain.
In addition to the symptoms noted above, a subset of Gaucher patients may exhibit neurological symptoms. Gaucher disease is divided into three subtypes based on the absence or presence of symptoms, as well as the degree of neurological involvement.
Type 1 Gaucher is known as the non-neuronopathic form of the disease because it does not typically affect the nervous system. It is the most common form of the disorder and is more prevalent among people of Ashkenazi Jewish decent. Treatment is available for type 1 Gaucher and, with early diagnosis and intervention, those affected by the disease can live normal, productive lives.
Type 2 Gaucher is referred to as the acute neuronopathic form of the disease and is characterized by its profound impact on the central nervous system, including progressive brain damage, seizures, paralysis of the eye muscles, abnormal muscle tone, and choking spells. Individuals with type 2 Gaucher have very short life expectancies, typically surviving only through early childhood. It is a very rare condition and, unlike type 1, is not more prevalent among the Ashkenazi Jewish population versus the general population. For additional information, click here.
Type 3 Gaucher is called the chronic neuronopathic form of the disease and is distinguished from type 2 based on the slower progression of the neurological effects. Symptoms may include loss of muscle coordination, seizures, paralysis of the eye muscles, and dementia. Though people with type 3 generally reach adulthood, they tend to experience shortened life spans. It is a rare condition that occurs more commonly among people from the province of Norrbotten in northern Sweden. For additional information, click here.
