Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management.
Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen, and bone marrow. We report the clinical and pathologic presentation of a patient with a florid type-1 Gaucher's disease who received long-term enzyme replacement therapy, which led to marked clinical improvement. A repeat liver biopsy performed at the time of a cholecystectomy several years after initiation of enzyme replacement therapy revealed complete resolution of Gaucher cells.
Heukamp
Lukas Carl
LC
Department of Pathology, University Hospital Bonn, Germany.
Schröder
Detlef-Wilhelm
DW
Plassmann
Dominik
D
Homann
Jürgen
J
Büttner
Reinhard
R
D001853:Bone Marrow / Q000473:pathology; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008875:Middle Aged
D005962:Glucosylceramidase