Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

Cejas, Luciana León; Pardal, Manuel Fernández; Riccio, Patricia M.; Rozenfeld, Paula; Ceci, Romina; Casas-Parera, Ignacio; Reisin, Ricardo; Mazziotti, Julieta; Luciana, León Cejas; Bonardo, Pablo; Diego, Miñarro; Manuel, Fernández Pardal; Tillard, Belén; Laura, De Francesco; Verónica, Tkachukt; Janina, Humanchio; Patricia, Riccio; Luciano, Sposatto; Francisco, Klein; Francisco, Muñoz; Eugenia, Gonzalez Toledo; Ameriso, Sebastián; Pujol, Virginia; Guillermo, Povedano; Zinnerman, Alberto; Martínez, Alejandra; Conti, Eugenia; Juan, Messina; Ignacio, Casas Parera; José, Tafur; Gatto, Emilia; Gabriel, Persi; Bendersky, Eduardo; Montero, Lorena; Alicia, Ateca; Ricardo, Allegri; Leonardo, Bartoloni; Mariana, Di Egidio; Ciardi, Celina; Alejandro, Alleva; Alberto, Rivero; Romano, Marina; Cairola, Patricia; Sánchez‐Luceros, Analía; Susana, Meschengesier; Javier, Halfon; Pablo, Schubaroff; Cristian, Calandra; Martín, Pedersoli Luis; Laura, Zuccolo; Félix, Reynoso; Nofal, Pedro; Mónica, Leri; Bruera, Guadalupe; Jure, Lorena; Sotelo, Andrea

doi:10.1016/j.jstrokecerebrovasdis.2017.09.045

Cited by 22 publications

(21 citation statements)

References 48 publications

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“…In a Canadian cohort of cryptogenic ischemic vascular events, the prevalence of Fabry disease was low, estimated to be around 0.3% [3,4]. Almost similar findings were reported in other studies among different populations [5,6,7]. This probably indicates homogeneous results among different populations despite variation in ethnic backgrounds and study-related methodologies.…”

Section: Discussionsupporting

confidence: 82%

The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

Alhazzaa

Mujtaba

Aljohani

et al. 2020

Cureus

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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.

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Section: Discussionsupporting

confidence: 82%

The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

Alhazzaa

Mujtaba

Aljohani

et al. 2020

Cureus

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“…One hemizygote with low AgalA activity had a renal biopsy without findings compatible with FD. 31 36 We identified four studies conducted in 2362 patients with neurologic disorders (three in patients with stroke 37,38,40 and one in patients with stroke or unexplained white matter lesions or vertebrobasilar dolichoectasia 39 ). All four hemizygotes had decreased AgalA activity: three with a range 10-33 nmol/L/mg protein in leucocytesref.…”

Section: Screening Of Populations Considered At High Risk For Fdmentioning

confidence: 99%

Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

Effraimidis

Rasmussen

Bundgaard

et al. 2020

J of Inher Metab Disea

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The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical relevance. We performed a systematic review of peer‐reviewed publications and case‐reports on individuals and populations harbouring the p.Asp313Tyr variant. Overall, 35 studies were included in this review. We collected data regarding the clinical manifestations, alpha‐galactosidase A enzyme activity, levels of the biomarkers globotriaosylceramide (Gb3) and sphingosine‐globotriaosylceramide (lyso‐Gb3) and histological findings of p.Asp313Tyr carriers. The prevalence of p.Asp313Tyr in populations at risk for FD (kidney, heart, neurologic disorders, or symptomatic populations) was calculated. We found high residual enzyme activity, low frequency of clinical features specific for FD, non‐elevated lysoGb3/Gb3 concentrations and lack of intracellular Gb3 accumulation in biopsies in the p.Asp313Tyr carriers. The prevalence of the variant in populations at risk for FD was comparable to the reported frequency in the general population. A possible higher frequency was only observed in neurologic disorders. p.Asp313Tyr can be classified as neutral or variant of unknown significance. Further investigations will be helpful to clarify a possible association between the variant and manifestations in the brain vessels.

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“…We reviewed 19 studies [103][104][105][106][107][108][109][110][111][112][113][114][115][116][117][118][119][120][121] on high-risk screening in individuals with central neurological manifestations (Table 3). Most of these studies reported screening in individuals with idiopathic strokes.…”

Section: High-risk Screening For Fd In Individuals With Central Neurological Manifestationsmentioning

confidence: 99%

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

et al. 2021

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Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene, which encodes the lysosomal enzyme α-galactosidase A (α-Gal A). FD detection in patients at an early stage is essential to achieve sufficient treatment effects, and high-risk screening may be effective. Here, we performed high-risk screening for FD in Japan and showed that peripheral neurological manifestations are important in young patients with FD. Moreover, we reviewed the literature on high-risk screening in patients with renal, cardiac, and central neurological manifestations. Based on the results of this study and review of research abroad, we believe that FD can be detected more effectively by targeting individuals based on age. In recent years, the methods for high-risk screening have been ameliorated, and high-risk screening studies using GLA next-generation sequencing have been conducted. Considering the cost-effectiveness of screening, GLA sequencing should be performed in individuals with reduced α-Gal A activity and females with certain FD manifestations and/or a family history of FD. The findings suggest that family analysis would likely detect FD patients, although GLA sequencing of asymptomatic family members requires adequate genetic counseling.

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Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

Cited by 22 publications

References 48 publications

The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

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