Table 2. Characteristics of the patients with FD and stroke.
Gb3: globotriaosylceramide; GVUS: genetic variants of unknown significance; ERT: enzyme replacement therapy; TIA: transient ischemic attack; mRS: modified Rankin scale; MCA: middle cerebral artery; PCA: posterior cerebral artery; α-GAL-A: alpha-galactosidase-A; MRI: magnetic resonance imaging; WMHs: white matter hyperintensities; CKD: chronic kidney disease; GI: gastrointestinal; FD: Fabry disease
| Author, year | Age and sex | Mutation | Gb3 levels and enzyme activity | Infarct | Outcome (second stroke) | Outcome | Treatment |
| Dubuc et al., 2012 [2] | 40 M | Unknown pathogenicity (GVUS) | Mildly elevated; Gb3 after the second stroke was normal | Nonlacunar vertebro basilar | 42 months later, he had an infarct in the carotid artery territory | Bad functional | No ERT, antiplatelet drugs |
| 41 F | Pathogenic | Not described | Lacunar ischemic stroke | Two TIAs and two recurrent nonlunar ischemic strokes in the subsequent 63 months of follow-up | Memory impairment | Aspirin, ERT after stroke | |
| Lanthier et al., 2017 [11] | 55 M | GVUS (p.R118C) | Normal (Gb3) | Lacunar (left basal ganglia and subcortical infarctions). No leukoaraiosis | He had no further cerebrovascular events at seven months | mRS had improved from 3 at baseline to 1 at six months. | No information available |
| 39 F | Single disease-neutral | Normal (Gb3) | Lacunar (acute left thalamic lacune) | No recurrent cerebrovascular events on aspirin and atorvastatin prophylaxis | No information available | No information available | |
| Rolfs et al., 2005 [13] | 38.4 M | α-GAL gene | Men: α-GAL-A high or low + Gb3 | MCA infarction: 28.6% (6/21). PCA infarction: 14.1% (3/21). Vertebrobasilar artery: 9/21 (42.9%). Hemorrhage: 5/7 (71.4%) | 10 cases of multiple cerebrovascular events | Hemiparesis, ataxia, dysarthria, pathologic nystagmus | No information regarding ERT |
| 40.3 F | Women: α-GAL-A high or normal + Gb3 | MCA infarction: 42.9% (3/7). PCA infarction: 14.3% (1/7). Vertebrobasilar artery: 4/7 (57.1%). Hemorrhage: 1/7 (14.3%). Vertebrobasilar infarction: 42.9% | Two cases of multiple cerebrovascular events | Information not available | Information not available | ||
| Malavera et al., 2020 [12] | 49 F | Pathogenic | Normal levels of Gb 3 | Intraparenchymal hemorrhage | No recurrent cerebrovascular events | Information not available | Secondary prevention with antiplatelets and statins |
| Gündoğdu et al., 2017 [1] | 24 M | Pathogenic | Low α-GAL-A activity (0.1 μmol/L/hour) | Right basal ganglia infarction. MRI revealed WMHs in both hemispheres and lacunar infarctions in the thalamus, brain stem, and parietal lobe | No further cerebrovascular events at six months | Cardiomyopathy, CKD, neuropathic pain, hypohidrosis, and GI disease | ERT |
| 43 M | Pathogenic | Low α-GAL-A activity (0.1 μmol/L/hour) | Lacunary infarction in the pons (same place as the previous stroke) | Second lacunar stroke | Remained with left-sided paralysis. | ERT | |
| Wozniak et al., 2010 [19] | Information not available | Pathogenic | Low α-GAL-A activity (0.1 μmol/L/hour) | Information not available | Information not available | Information not available | Information not available |
| Information not available | Undetermined pathogenicity | Low α-GAL-A activity (0.1 μmol/L/hour) | Information not available | Information not available | Information not available | Information not available |