<scp>F</scp>abry disease in unselected patients with <scp>TIA</scp> or stroke: population‐based study

Marquardt, Lars; Rj, Baker; Segal, Helen; Burgess, A I; Poole, D L; Hughes, D.A.; Rothwell, Peter M.

doi:10.1111/j.1468-1331.2012.03739.x

Cited by 30 publications

(26 citation statements)

References 25 publications

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“…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%

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

Lanthier

Saposnik²,

Lebovic³

et al. 2017

Stroke

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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.

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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

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“…Not only was it detected both in the BEFAS and the sifap study, but also in a recent study by Marquardt and colleagues. 18 Within a subcohort of the OXVASC study, 5 stroke patients with D313Y were detected. However, 3 of the 4 females identified were >90 years.…”

Section: Discussionmentioning

confidence: 99%

Acute Cerebrovascular Disease in the Young

Heuschmann¹,

Jungehülsing²,

Giese³

et al. 2013

Stroke

194

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Background and Purpose-Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods-Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396) *Drs Rolfs, Fazekas and Grittner contributed equally to this work. Authors contributions: Dr Rolfs has conceptualized, initiated, and designed and organized the study, has been involved in the recruitment of the patients, and wrote significant parts of the manuscript. Dr Fazekas was involved in the study planning and has done together with Drs Enzinger and Schmidt the analysis of all MRI scans; this group was mainly involved in the statistical analysis of the MRI data. Drs Martus, Grittner, Holzhausen have taken responsibility for all statistical analysis and for the data structure of the total data bank. Drs Dichgans, Böttcher, Tatlisumak, Tanislav, Jungehulsing, Putaala, Huber, Bodechtel, Lichy, Hennerici, Kaps, Meyer, Kessler have been most active in the recruitment of the patients, drafting the manuscript and significantly influencing the scientific discussion. Dr Heuschmann was involved in drafting the manuscript and influencing the scientific discussion. Dr Norrving chaired the steering and publication committees of sifap, has written parts of the manuscript, and has significantly influenced the scientific discussions. Drs Lackner and Paschke, H. Mascher, Dr Riess have been involved in the laboratory analyses. Dr Kolodny has mostly contributed to the discussion of the Fabry cases. Dr Giese assisted in writing and editing the manuscript. All authors have reviewed, critically revised and approved the final version of the manuscript.The sponsors of the study had no role in the study design, data collection, data analysis, interpretation, writing of the manuscript, or the decision to submit the manuscript for publication. The academic authors had unrestricted access to the derived dataset, and assume full responsibility for the completeness, integrity, and interpretation of the data, as well as writing the study report and the decision to submit for publication.†Listed in Appendix I in the online-only Data Supplement. Jeffrey L. Saver, MD, was guest editor for this article.

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“…As the majority of these diseases resemble the MRI, digital subtraction angiography (DSA) and laboratory findings of angiitis, a biopsy of affected tissue is often necessary in order to prove the correct diagnosis. Moreover, detailed anamnesis and diagnostic work-up often allow diagnosis of non-inflammatory vasculopathies such as Moyamoya disease [47], Fabry's disease [48][49][50], Sneddon's syndrome [6] and RCVS [22,43,51,52]. For PACNS, a cerebral and meningeal biopsy is the gold standard for diagnosis.…”

Section: Diagnosis Of Definitive Vasculitismentioning

confidence: 99%

Cerebral vasculitis in adults: what are the steps in order to establish the diagnosis? Red flags and pitfalls

Berlit

Kraemer

2014

Clinical and Experimental Immunology

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Cerebral vasculitis is a rare cause of juvenile stroke. It may occur as primary angiitis of the central nervous system (PACNS) or as CNS manifestation in the setting of systemic vasculitis. Clinical hints for vasculitis are headache, stroke, seizures, encephalopathy and signs of a systemic inflammatory disorder. Diagnostic work-up includes anamnesis, whole body examination, laboratory and cerebral spinal fluid (CSF) studies, magnetic resonance imaging (MRI), angiography and brain biopsy. Due to the rarity of the disease, exclusion of more frequent differential diagnoses is a key element of diagnostic work -up. This review summarizes the steps that lead to the diagnosis of cerebral vasculitis and describes the red flags and pitfalls. Despite considering the dilemma of angiography-negative vasculitis and false-negative brain biopsy in some cases, it is important to protect patients from 'blind' immunosuppressive therapy in unrecognized non-inflammatory differential diagnosis.

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Fabry disease in unselected patients with TIA or stroke: population‐based study

Abstract: Fabry disease is rare in an unselected group of UK patients with TIA or stroke. Larger studies in unselected younger patients with cryptogenic stroke are required to determine whether routine screening is justified in this group.

Cited by 30 publications

References 25 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

Acute Cerebrovascular Disease in the Young

Cerebral vasculitis in adults: what are the steps in order to establish the diagnosis? Red flags and pitfalls

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