Credits: 2.0 hour (0.2 ceu)
Type of Activity: Application
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Estimated time to complete activity: 120 minutes
Gaucher disease is a rare genetic disease. It is within the category of genetic disorders called inborn errors of metabolism, which are disorders that do not allow the body to turn food into energy. Gaucher disease affects the recycling of glycolipids because of a deficiency of the lysosomal enzyme glucocerebrosidase. More than 40 hereditary lysosomal storage disorders exist, but Gaucher disease is the most common. An estimated 1 in 57,000 to 1 in 111,000 people will develop Gaucher disease. It has a higher prevalence in Ashkenazi Jews, occurring in approximately 1 in 885 people. The effects of Gaucher disease are classified into 3 categories (types 1, 2, and 3) on the basis of the presence of neurologic deterioration, age of presentation, and rate of disease progression.
Type 1 Gaucher disease is the most common form, accounting for 95% of cases.2 This form is non-neuronopathic. Most patients are diagnosed before the age of 20 years old. Signs and symptoms at diagnosis include myelosuppression, hepatosplenomegaly, bone disease, pubertal delay, and growth retardation. This form is also associated with a hypermetabolic state, which results in poor weight gain. Types 2 and 3 disease are neuronopathic and, together, affect the other 5% of patients with Gaucher disease. Patients with these types are more likely to be of Asian and middle Eastern descent. Type 2 Gaucher disease is often called acute neuronopathic Gaucher disease and affects newborns and infants. Profound neurologic symptoms include involuntary horizontal eye movement, as well as hypotonia, spasticity, and seizures. Most of these patients die by the age of 2 years. Type 3 Gaucher disease is a chronic neuronopathic form, with 3 subtypes (a, b, and c). Each subtype has more progressive neurologic involvement. Patients with type 3 disease survive longer than those with type 2 disease. Clusters of patients with type 3 disease have been found in Northern Europe, Egypt, and East Asia, but it can affect any ethnic group.
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