Type I Gaucher’s disease is the most common. It is non-neuropathic because the brain and spinal cord are usually not involved. Symptoms of this type include an enlarged liver and spleen, a low number of red blood cells, easy bruising caused by a decrease in blood platelets, lung disease and bone abnormalities including bone pain, fractures and arthritis.
Types 2 and 3 of Gaucher’s disease are neuronapathic forms of the disorder, characterized by problems of the central nervous system. The condition can cause abnormal eye moments, seizures and brain damage. People with Type 3, with progressive neurological symptoms appearing later in childhood, worsen more slowly than those with Type 2. Lack of coordination, mental deterioration and seizures characterized by brief shock-like jerks of a muscle or group of muscles may result.
There is also a subclassification type 3 called Norbotthian Gaucher’s Disease, during which slowly progressive neurologic symptoms may not occur until early childhood. No effective treatment exists for people with types 2 or 3 who have severe brain damage, according to the National Institute of Neurological Disorders and Stroke, which is part of the National Institutes of Health.
The most severe manifestation of the disease is the perinatal lethal form, occurring before birth or in infancy. It features extensive swelling caused by fluid accumulation before birth, dry and scaly skin or other skin abnormalities, distinctive facial features, and severe neurological problems. Most infants with this form survive only a few days, but some live approximately two years. Unfortunately, there is no known treatment for this type of the disease.
Also serious is the cardiovascular type of Gaucher’s disease, which causes heart valves to harden. People with this form of the disease may also have eye abnormalities, bone disease and mild spleen enlargement.