Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

Abstract

Electronoptic study of dermal capillaries showed a novel feature represented by ultrastructural signs of activation of the capillary endothelium. There were no signs of lysosomal storage.

This finding may explain part of the haematological abnormalities known to exist in Gaucher disease. It is discussed if this finding is a consequence of the enzymopathy itself or if it is due to cytokine stimulation by Gaucher macrophages.

Keywords

• lysosomal storage diseases
• perinatal lethal form
• beta-glucocerebrosidase
• fabry-disease
• reactive angioendotheliomatosis
• progenitor cells
• mouse model
• angiogenesis
• plasma
• sarcoidosis