Gaucher Disease
Patient Information
Characteristics
Background and History
Gaucher disease is caused by an enzyme deficiency and has a highly variable clinical picture. It belongs to a family of disorders in which cells become dysfunctional from storage of material that cannot be broken down.
Clinical Correlations
Several types of Gaucher disease have been described although the all result from mutations in the same gene. The most severe type may cause death soon after birth, whereas in other patients with other types have symptoms so mild that the disease is barely detectable in even in adults. The majority of patients have enlargement of the liver and spleen, anemia, abnormally thin bone, joint degeneration, and abnormal bleeding. Growth and mental retardation are common and seizures sometimes occur. Some eye changes from abnormal deposits in the retina and the cornea have been reported. Vision is probably not severely affected in most patients but there are exceptions. Difficulty in moving the eyes smoothly may be the most common sign.
Genetics
Inheritance
This is an autosomal recessive disorder that results from the inheritance of two mutations, one from each of the normal adult ‘carriers’. The risk for additional children with the same disease is 25% for such parents.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
Usually the pediatrician suspects the diagnosis based on the signs and symptoms at birth or early in childhood. Testing for the enzyme deficiency is usually diagnostic. The prognosis is unpredictable because of the wide range of clinical disease. The most mildly affected patients can live a long life whereas the disease may be so severe in others that it is not compatible with life. Most patients have some neurologic damage including mental retardation. Enzyme replacement or substrate reduction therapies with commercially available products can reduce the severity of disease in some patients. Others require surgery to remove the spleen for anemia or joint replacement to reduce pain.
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