Pathohistological and ultrastructural study of systemic vasculopathy (Fabry disease)

Pathomorphological analysis of skin biopsy specimens from patients with Fabry disease showed edema and mucoid swelling of vascular walls in the skin, pronounced telangiectasias, endotheliocyte degeneration and death, compensatory proliferation of pericytes, and mast cell hyperplasia. Ultrastructural study revealed transformation of vascular cells (endotheliocytes and pericytes) into depocytes accumulating large specific polymorphic granules of varying electron density with fine regular striation, which is pathognomonic for Fabry disease. The complex of these structural changes is interpreted as manifestation of systemic vasculopathy.