NCBI updates Gaucher disease clinical reference
Hughes and Pastores published a revised clinical overview of Gaucher disease in the GeneReviews database. The lysosomal storage disorder, caused by deficient glucocerebrosidase enzyme activity, presents across a spectrum from perinatal-lethal cases to asymptomatic individuals. The authors organize presentations into three major types (1, 2, and 3) plus two clinical forms: perinatal-lethal and cardiovascular. Type 1 shows bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease without primary central nervous system involvement. Type 2 brings central nervous system disease before age two years, limited psychomotor development, and death by age two to four years. Type 3 involves childhood-onset central nervous system disease with slower progression and survival into the third or fourth decade. Diagnosis requires demonstration of deficient enzyme activity in leukocytes or other nucleated cells, or identification of biallelic pathogenic variants in GBA1. Treatment options are enzyme replacement therapy, substrate reduction therapy with miglustat or eliglustat, and hematopoietic stem cell transplantation for severe cases with chronic neurologic involvement.
Physicians treating Gaucher disease now have a current consolidated reference for diagnostic and therapeutic decisions.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].