Gaucher's disease is a genetic disorder in which the body lacks an enzyme known as glucocerebrosidase. Without this enzyme, the body cannot metabolize a fatty substance called glucocerebroside, and it collects in various organs. This lipid-storage disease occurs when a child receives genes for it from both parents. According to Mayo Clinic, it is more common in people of Northern or Eastern European Jewish descent. There are three types of Gaucher's disease, each with a set of common symptoms.
Type One
Most people with Gaucher's have type one of the disease. While present at birth, it may not be diagnosed until adulthood. Symptoms include fatigue, enlarged spleen, nosebleed, anemia and easy bruising and bleeding due to thrombocytopenia. The bones are affected, leaving the sufferer susceptible to bone pain and easy fracturing. Puberty may be delayed in both males and females with type-one Gaucher disease. Some people will have one or more yellow, fatty spots on the whites of the eye. This type may also cause kidney and lung disorders.
Type Two
Gaucher disease type two is present at birth and manifests early in life, usually being diagnosed by 2 months of age. Symptoms include those listed for type one plus severe brain impairments. The brain stem is affected, with mental retardation and brain damage becoming apparent during infancy. Muscular rigidity and seizure activity are further signs of type two. This type has more severe spleen and liver enlargement than type one; the National Institute of Neurological Disorders and Stroke reports that most patients succumb during the first two years of life.
Type Three
Type three is present at birth but often undiagnosed until the teen years, when symptoms become apparent. It usually follows a slow course, with fatty deposits affecting the brain as the person ages. Symptoms include seizures, spleen enlargement and liver enlargement. The sufferer goes from being able to think clearly to having mild to moderate mental impairments. Some people with type three have unusual eye movements due to neurological damage.
