The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

Abstract

Introduction Fabry disease is a metabolic storage disorder that causes disorders in multiple organs including the brain. Data regarding the prevalence of the disease among the Saudi stroke population is scarce. Hence, tests for the same are not conducted on a regular basis when investigating stroke of uncertain cause. Our study aimed to provide insight into whether testing for Fabry disease is justifiable in cryptogenic stroke patients who have no other features of the disease. Method This was a prospective study conducted at a single stroke center. We included young patients between the ages of 18 and 55 years who had confirmed and unexplained ischemic or hemorrhagic insults. Alpha-galactosidase enzyme testing was conducted in all suspected cases. Further genetic testing was performed in patients with abnormal enzyme results. Result A total of 51 patients met the inclusion criteria. The mean age was 42 years. All the included patients completed a workup of ischemia or hemorrhage. All cases had no clear etiology of their vascular events. All included patients lacked classic systemic manifestations of Fabry disease. We identified one case of borderline low α-galactosidase A (GLA) enzyme level. However, GLA genetic testing did not reveal any Fabry disease-related mutation. The study did not identify any subject with confirmed Fabry disease. Conclusion In this single-center study, we found that Fabry disease had a low prevalence among Saudi cryptogenic stroke patients who lack other systemic manifestations. Hence, Fabry testing is not generally considered in routine workup related to cryptogenic stroke.

Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review

“…Table 3 shows the bias of the studies included in this systematic review [1,2,[11][12][13][14][15][16]19].…”

“…In five studies, the authors found that the sample was too small to reach statistical power [1,11,[14][15][16]. In the study by Kinoshita et al, genetic analysis was not conducted in each patient, which could lead to a measurement bias [14].…”

“…Further, in the study by Brouns et al, genetic testing was not performed among women which could introduce bias as the enzyme levels in female FD patients are often normal (false negatives) [ 16 ]. Finally, this study did not include cases of lacunar infarcts which further limited their numbers [ 15 ].…”

“…Moreover, recognizing neutral mutations is vital to ensure that patients do not go through unnecessary investigations and treatment [ 11 ]. Alhazzaa et al also argued that screening for FD in patients with cryptogenic stroke is not cost-effective [ 15 ].…”

“…shows the characteristics and outcomes of the cohorts investigated in this systematic review[1,2,[11][12][13][14][15][16][17][18][19].…”