"Sometimes familiar symptoms don't add up to a familiar diagnosis."
Health Care Professionals
Genetics & Gaucher Disease
Gaucher disease is an autosomal recessive disorder caused by the presence of two mutant alleles coding for the glucocerebrosidase gene on chromosome 1. To date, more than 300 mutant alleles have been identified.
Identifying Gaucher Disease
Many of Gaucher disease's presenting symptoms-from hepatosplenomegaly to bone pain to hematological complications-are also found with other more common diseases. It is not unusual for physicians to initially suspect other disorders.
Resources & Support
The resources and support listed in this section are intended to help medical professionals get the information they need to provide comprehensive care for their patients with Gaucher disease.
Making a diagnoses
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Gaucher disease patients may have protruding abdomens, from an enlarged liver and/or spleen, due to accumulation of Gaucher cells. The spleen can swell to greater than 15 times its normal size, while the liver can swell to 2.5 times its normal size.
The Gaucher Registry
The Gaucher Registry is a worldwide database that tracks health-related information for people with Gaucher disease, allowing doctors and health care professionals to better understand and treat the disorder.