AIM: We used intravascular ultrasound (IVUS) to characterize coronary artery involvement in patients with Fabry disease (FD). METHODS: Nine FD patients (5 women) were matched to 10 control patients (5 women) chosen from our IVUS database. Standard volumetric IVUS analyses were performed along with assessment of plaque echodensity. RESULTS: Plaques in FD patients were diffuse and hypoechogenic compared with more focal and more echogenic lesions in control patients. Echogenicity of plaques was significantly lower in FD patients (median 30.7 +/- 12.9 vs 55.9 +/- 15.7, p = 0.0052, mean 37.2 +/- 15.6 vs 66.2 +/- 13.3, p = 0.0014). Diffusiveness was assessed as differences between mean and median plaque burden versus the plaque burden in each of the analysed cross-sections. These differences were lower in FD vs controls (5.8 +/- 4.8 vs 8.7 +/- 6.6, p < 0.001 for mean, and 5.8 +/- 4.9 vs 8.8 +/- 7.3, p < 0.001 for median) indicating a more diffuse involvement. The occurrence of lipid cores was significantly higher in FD patients than in controls (2.4 +/- 1.5 vs 1.0 +/- 0.94, p = 0.02). CONCLUSION: IVUS showed diffuse hypoechogenic plaques in patients with FD. The explanation may be higher lipid content in plaques and accumulation of glycosphingolipid in smooth-muscle and endothelial cells.

• MeSH
• Endothelium, Vascular pathology   MeSH
• Fabry Disease complications   diagnosis   diagnostic imaging   MeSH
• Fibroblasts metabolism   MeSH
• Coronary Angiography methods   MeSH
• Coronary Vessels diagnostic imaging   pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Coronary Artery Disease complications   diagnosis   diagnostic imaging   MeSH
• Aged MeSH
• Case-Control Studies MeSH
• Trihexosylceramides metabolism   MeSH
• Ultrasonography MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• globotriaosylceramide MeSH Browser
• Trihexosylceramides MeSH

Immunohistochemical studies of the presence of lactosylceramide (LacCer) in lysosomal storage disorders (LSDs) were done using anti-LacCer monoclonal antibody of the CDw 17 type (clone MG-2). No sign of an association between LacCer and the lysosomal system in normal cells was observed, except for histiocytes active in phagocytosis. A comparative study of a group of LSDs showed a general tendency for LacCer to increase in storage cells in Niemann-Pick disease type C (NPC), and types A and B, GM1 gangliosidosis, acid lipase deficiency, glycogen storage disease type II and mucopolysaccharidoses. LacCer accumulated in storage cells despite normal activity of relevant lysosomal degrading enzymes. The accumulation of LacCer displayed variability within storage cell populations, and was mostly expressed in neurons in NPC. An absence of the increase in LacCer in storage cells above control levels was seen in neuronal ceroid lipofuscinoses (neurons and cardiocytes) and in Fabry disease. Gaucher and Krabbe cells showed significantly lower levels, or even the absence, of LacCer compared with control macrophages. Results of immunohistochemistry were corroborated by semiquantitative lipid thin-layer chromatography (TLC). It is suggested that different associations of LacCer with the lysosomal storage process may reflect differences in glycosphingolipid turnover induced by the storage-compromised lysosomal/endosomal system.

• MeSH
• Biomarkers analysis   MeSH
• Antigens, CD analysis   metabolism   MeSH
• Chromatography, Thin Layer methods   MeSH
• Child MeSH
• Adult MeSH
• Histiocytes chemistry   metabolism   pathology   MeSH
• Immunohistochemistry methods   MeSH
• Liver chemistry   metabolism   pathology   MeSH
• Lactosylceramides analysis   metabolism   MeSH
• Humans MeSH
• Lysosomal Storage Diseases classification   metabolism   pathology   MeSH
• Macrophages chemistry   metabolism   pathology   MeSH
• Cerebral Cortex chemistry   metabolism   pathology   MeSH
• Neurons chemistry   metabolism   pathology   MeSH
• Spleen chemistry   metabolism   pathology   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Comparative Study MeSH
• Names of Substances
• Biomarkers MeSH
• Antigens, CD MeSH
• CDw17 antigen MeSH Browser
• Lactosylceramides MeSH