Factsheet
Condition:
Gaucher disease
Inheritance:
Autosomal recessive
Genetic Etiology:
Mutation in GBA gene, encoding glucosylceramidase.
Frequency:
Varies in different populations; 1/855 in Ashkenazi Jewish population (for type 1 GD)
Clinical features:
Gaucher disease is a lysosomal disorder in which there is accumulation of glucosylceramide. There are three major clinical subtypes. Type 1 is characterized by bone disease (lytic lesions, osteopenia), hepatosplenomegaly, anemia, thrombocytopenia, and lung disease. The nervous system is not involved in Type 1. Types 2 and 3 have progressive neurological impairment, with type 3 characterized by later age of onset and slower progression.
Management:
Supportive care and monitoring; enzyme replacement therapy by intravenous infusion benefits those with type 1, and, to some extent type 3.
Genetic counseling:
Based on autosomal recessive inheritance; genetic testing is available and can be used for carrier detection.