Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke

Dubuc, Véronique; Moore, David F.; Gioia, Laura; Saposnik, Gustavo; Selchen, Daniel; Lanthier, Sylvain

doi:10.1016/j.jstrokecerebrovasdis.2012.10.005

Cited by 41 publications

(40 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The size of our cohort is larger than the sum of 3 previous Fabry studies targeting cryptogenic events, 18,19,21 resulting in a more precise prevalence estimate. Our study provides some insight on the overall prognosis of young patients with a cryptogenic IS, which accounts for one third of cases.…”

Section: Discussionmentioning

confidence: 97%

“…The very low prevalence we found is consistent with most previous studies based on various designs (Table 4). [17][18][19][20][21][22][23][24][25][26][27] Two smaller North American studies 17,18 and most European studies [19][20][21][22][23][24] identified Fabry in 0.0% to 1.0% of cryptogenic IS or diverse other cerebrovascular conditions. Only 3 European studies reported a prevalence >1.0% in cryptogenic IS.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events

Lanthier

Saposnik²,

Lebovic³

et al. 2017

Stroke

Self Cite

View full text Add to dashboard Cite

Background and Purpose-Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA). Methods-We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. α-galactosidase-A gene was sequenced for Fabry diagnosis. National Institutes of Health Stroke Scale score was measured at presentation to quantify stroke severity. Modified Rankin Scale determined functional outcomes ≤7 days after presentation and 6 months later. Results-We enrolled 365 patients with IS and 32 with TIA. α-galactosidase-A sequencing identified a single carrier of a genetic variant of unknown significance (p.R118C) and no well-recognized pathogenic variants. Mean National Institutes of Health Stroke Scale score was 3.1. Proportion of patients with modified Rankin Scale of 0 to 2 was 70.7% at ≤7 days and 87.4% at 6 months. National Institutes of Health Stroke Scale score at presentation and diabetes mellitus predicted 6-month modified Rankin Scale. Thirteen patients experienced 5 recurrent IS and 9 TIA during follow-up. No patient died. Most patients (98.7%) returned home. Among previous workers, 43% had residual working limitations. Conclusions-In this Canadian cohort of patients with cryptogenic IS or TIA, the prevalence of Fabry was 0.3% if p.R118C variant is considered as pathogenic. This suggests that more cost-effective methods should be applied for diagnosis of Fabry rather than systematic genetic screening in this population. Overall, cryptogenic IS in young adults is associated with favorable outcomes.

show abstract

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events

Lanthier

Saposnik²,

Lebovic³

et al. 2017

Stroke

Self Cite

View full text Add to dashboard Cite

show abstract

“…Previous hypotheses about FD prevalence in the cryptogenic (undetermined) young stroke cohort 32 could not be supported by several subsequent studies (Table 1). 14,15,[32][33][34][35][36][37][38] Therefore, a regular FD screening tool remains out of reach. Three screening studies did not identify any patients with FD, 33,35,36 but others have reported FD in 0.5% to 3.9% of the stroke population.…”

Section: Prevalence Of Fd In Patients With Ischemic Strokementioning

confidence: 99%

“…Three screening studies did not identify any patients with FD, 33,35,36 but others have reported FD in 0.5% to 3.9% of the stroke population. 14,15,32,34,37,38 This variation in reported prevalence may be because of differences in the studied stroke populations (age and sex ratios), the stroke types studied, and the diagnosis of FD. Some studies investigated ischemic stroke, whereas others included hemorrhagic stroke, which may have underestimated the prevalence of FD.…”

Section: Prevalence Of Fd In Patients With Ischemic Strokementioning

confidence: 99%

Cerebrovascular Involvement in Fabry Disease

Kolodny

Fellgiebel

Hilz

et al. 2015

Stroke

148

156

View full text Add to dashboard Cite

“…Bekri et al 2005;Spada et al 2006;Brouns et al 2007;Lin et al 2009;Wallin et al 2011;Dubuc et al 2012;Mechtler et al 2012). These screening studies have revealed a high number of individuals with variants in the GLA gene (Kobayashi et al 2012;Terryn et al 2013;van der Tol et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

et al. 2014

View full text Add to dashboard Cite

Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the a-galactosidase A (GLA) gene may be unclear. This uncertainty often leads to considerable distress and inappropriate counselling and treatment. We developed a clinical approach for these individuals with an uncertain diagnosis of FD.Materials and Methods: A document was presented to an FD expert panel with background information based on

show abstract

Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke

Cited by 41 publications

References 22 publications

Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events

Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events

Cerebrovascular Involvement in Fabry Disease

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Contact Info

Product

Resources

About