Über interne und pathologisch-anatomische Befunde bei Angiokeratoma corporis diffusum (Fabry)

Vertebrobasilar Dolichoectasia in Fabry Disease

“…Historically, the cerebral pathology of FD has been considered a secondary manifestation of a primary endotheliopathy. 6 However, involvement of smooth muscle cells (SMCs) in the vessel wall has also been demonstrated, suggesting a more complex pathogenesis. 7 Compromise of SMCs in the medial vessel layer is the result of the storage of globotriaosylceramide (Gb3) and the response to hypertrophic factors such as Lyso-Gl 3 and sphingosine-1 phosphate.…”

Renal Accumulation of Glycosphingolipids

“…Such renal changes are probably due to increase and accumulation of CTH. Since CTH is also excreted in urine, diagnosis would be possible through measurement of CTH in urine [7][8][9][10][11], Renal damage is so intense in Fabry's disease that kidney transplantation is performed for therapeutic purposes [12,13], In only 16 autopsy cases of Fabry's disease in literature so far (table II) [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29], were glomerular epithelial cells swollen and vacuolated with foamy appearance of the distal tubular epithelial cells and similar foamy cells found within the tubular lumen. Vacuolation and hyalinization of smooth muscles in intrarenal arteries are also recorded.…”

Angiokeratoma corporis diffusum: the evolution of a disease entity

“…The incidence of uraemia and hypertension was noted and studies of post-mortem material by Ruiter, Pompen and Wijers (1947) led to the suggestion of lipid storage disease. However, the source of this lipid remained undetermined.…”