Nationwide screening for Fabry disease in unselected stroke
patients

J 2021

Nationwide screening for Fabry disease in unselected stroke patients

TOMEK, Ales, Petra REKOVÁ, Jaroslava PAULASOVÁ SCHWABOVÁ, Anna OLŠEROVÁ, Miroslav ŠKORŇA et. al.

Základní údaje

Originální název

Nationwide screening for Fabry disease in unselected stroke patients

Autoři

TOMEK, Ales (203 Česká republika), Petra REKOVÁ (203 Česká republika), Jaroslava PAULASOVÁ SCHWABOVÁ (203 Česká republika), Anna OLŠEROVÁ (203 Česká republika), Miroslav ŠKORŇA (203 Česká republika, domácí), Miroslava NEVŠÍMALOVÁ (203 Česká republika), Libor ŠIMŮNEK (203 Česká republika), Roman HERZIG (203 Česká republika), Štěpánka FAFEJTOVÁ (203 Česká republika), Petr MIKULENKA (203 Česká republika), Alena TÁBOŘÍKOVÁ (203 Česká republika), Jiří NEUMANN (203 Česká republika), Richard BRZEZNY (203 Česká republika), Helena SOBOLOVÁ (203 Česká republika), Jan BARTONÍK (203 Česká republika), Daniel VÁCLAVÍK (203 Česká republika), Marta VACHOVÁ (203 Česká republika), Karel BECHYNĚ (203 Česká republika), Hana HAVLÍKOVÁ (203 Česká republika), Tomáš PRAX (203 Česká republika), Daniel ŠAŇÁK (203 Česká republika), Irena ČERNÍKOVÁ (203 Česká republika), Iva ONDEČKOVÁ (203 Česká republika), Petr PROCHÁZKA (203 Česká republika), Jan RAJNER (203 Česká republika), Miroslav ŠKODA (203 Česká republika), Jan NOVÁK (203 Česká republika), Ondřej ŠKODA (203 Česká republika), Mcihal BAR (203 Česká republika), Robert MIKULÍK (203 Česká republika, garant, domácí), Gabriela DOSTÁLOVÁ (203 Česká republika) a Aleš LINHART (203 Česká republika)

Vydání

PLOS ONE, SAN FRANCISCO, PUBLIC LIBRARY SCIENCE, 2021, 1932-6203

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.752

Kód RIV

RIV/00216224:14110/21:00124284

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1371/journal.pone.0260601

UT WoS

000754615500008

Klíčová slova anglicky

Fabry disease; stroke patients; screening

Štítky

14110127, 14110221, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 2. 2022 13:29, Mgr. Tereza Miškechová

Anotace

V originále

Background and aims Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients. Methods A prospective nationwide study including 35 (78%) of all 45 stroke centers and all consecutive stroke patients admitted during three months. Clinical data were collected in the RES-Q database. FD was diagnosed using dried blood spots in a stepwise manner: in males—enzymatic activity, globotriaosylsphingosine (lyso-Gb3) quantification, if positive followed by GLA gene sequencing; and in females GLA sequencing followed by lyso-Gb3. Results 986 consecutive patients (54% men, mean age 70 years) were included. Observed stroke type was ischemic 79%, transient ischemic attack (TIA) 14%, intracerebral hemorrhage (ICH) 7%, subarachnoid hemorrhage 1% and cerebral venous thrombosis 0.1%. Two (0.2%, 95% CI 0.02–0.7) patients had a pathogenic variant associated with the classical FD phenotype (c.1235_1236delCT and p.G325S). Another fourteen (1.4%, 95% CI 0.08–2.4) patients had a variant of GLA gene considered benign (9 with p.D313Y, one p.A143T, one p.R118C, one p.V199A, one p.R30K and one p.R38G). The index stroke in two carriers of disease-associated variant was ischemic lacunar. In 14 carriers of GLA gene variants 11 strokes were ischemic, two TIA, and one ICH. Patients with positive as compared to negative GLA gene screening were younger (mean 60±SD, min, max, vs 70±SD, min, max, P = 0.02), otherwise there were no differences in other baseline variables. Conclusions The prevalence of FD in unselected adult patients with acute stroke is 0.2%. Both patients who had a pathogenic GLA gene variant were younger than 50 years. Our results support FD screening in patients that had a stroke event before 50 years of age.

Návaznosti

90128, velká výzkumná infrastruktura

Název: CZECRIN III

Citovat

TOMEK, Ales, Petra REKOVÁ, Jaroslava PAULASOVÁ SCHWABOVÁ, Anna OLŠEROVÁ, Miroslav ŠKORŇA, Miroslava NEVŠÍMALOVÁ, Libor ŠIMŮNEK, Roman HERZIG, Štěpánka FAFEJTOVÁ, Petr MIKULENKA, Alena TÁBOŘÍKOVÁ, Jiří NEUMANN, Richard BRZEZNY, Helena SOBOLOVÁ, Jan BARTONÍK, Daniel VÁCLAVÍK, Marta VACHOVÁ, Karel BECHYNĚ, Hana HAVLÍKOVÁ, Tomáš PRAX, Daniel ŠAŇÁK, Irena ČERNÍKOVÁ, Iva ONDEČKOVÁ, Petr PROCHÁZKA, Jan RAJNER, Miroslav ŠKODA, Jan NOVÁK, Ondřej ŠKODA, Mcihal BAR, Robert MIKULÍK, Gabriela DOSTÁLOVÁ a Aleš LINHART. Nationwide screening for Fabry disease in unselected stroke patients. PLOS ONE. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2021, roč. 16, č. 12, s. 1-12. ISSN 1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0260601.

@article{1837020,
   author = {Tomek, Ales and Reková, Petra and Paulasová Schwabová, Jaroslava and Olšerová, Anna and Škorňa, Miroslav and Nevšímalová, Miroslava and Šimůnek, Libor and Herzig, Roman and Fafejtová, Štěpánka and Mikulenka, Petr and Táboříková, Alena and Neumann, Jiří and Brzezny, Richard and Sobolová, Helena and Bartoník, Jan and Václavík, Daniel and Vachová, Marta and Bechyně, Karel and Havlíková, Hana and Prax, Tomáš and Šaňák, Daniel and Černíková, Irena and Ondečková, Iva and Procházka, Petr and Rajner, Jan and Škoda, Miroslav and Novák, Jan and Škoda, Ondřej and Bar, Mcihal and Mikulík, Robert and Dostálová, Gabriela and Linhart, Aleš},
   article_location = {SAN FRANCISCO},
   article_number = {12},
   doi = {http://dx.doi.org/10.1371/journal.pone.0260601},
   keywords = {Fabry disease; stroke patients; screening},
   language = {eng},
   issn = {1932-6203},
   journal = {PLOS ONE},
   note = {STROCZECH},
   title = {Nationwide screening for Fabry disease in unselected stroke patients},
   url = {https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0260601},
   volume = {16},
   year = {2021}
}

TY  - JOUR
ID  - 1837020
AU  - Tomek, Ales - Reková, Petra - Paulasová Schwabová, Jaroslava - Olšerová, Anna - Škorňa, Miroslav - Nevšímalová, Miroslava - Šimůnek, Libor - Herzig, Roman - Fafejtová, Štěpánka - Mikulenka, Petr - Táboříková, Alena - Neumann, Jiří - Brzezny, Richard - Sobolová, Helena - Bartoník, Jan - Václavík, Daniel - Vachová, Marta - Bechyně, Karel - Havlíková, Hana - Prax, Tomáš - Šaňák, Daniel - Černíková, Irena - Ondečková, Iva - Procházka, Petr - Rajner, Jan - Škoda, Miroslav - Novák, Jan - Škoda, Ondřej - Bar, Mcihal - Mikulík, Robert - Dostálová, Gabriela - Linhart, Aleš
PY  - 2021
TI  - Nationwide screening for Fabry disease in unselected stroke patients
JF  - PLOS ONE
VL  - 16
IS  - 12
SP  - 1-12
EP  - 1-12
PB  - PUBLIC LIBRARY SCIENCE
SN  - 19326203
N1  - STROCZECH
KW  - Fabry disease
KW  - stroke patients
KW  - screening
UR  - https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0260601
N2  - Background and aims Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients. Methods A prospective nationwide study including 35 (78%) of all 45 stroke centers and all consecutive stroke patients admitted during three months. Clinical data were collected in the RES-Q database. FD was diagnosed using dried blood spots in a stepwise manner: in males—enzymatic activity, globotriaosylsphingosine (lyso-Gb3) quantification, if positive followed by GLA gene sequencing; and in females GLA sequencing followed by lyso-Gb3. Results 986 consecutive patients (54% men, mean age 70 years) were included. Observed stroke type was ischemic 79%, transient ischemic attack (TIA) 14%, intracerebral hemorrhage (ICH) 7%, subarachnoid hemorrhage 1% and cerebral venous thrombosis 0.1%. Two (0.2%, 95% CI 0.02–0.7) patients had a pathogenic variant associated with the classical FD phenotype (c.1235_1236delCT and p.G325S). Another fourteen (1.4%, 95% CI 0.08–2.4) patients had a variant of GLA gene considered benign (9 with p.D313Y, one p.A143T, one p.R118C, one p.V199A, one p.R30K and one p.R38G). The index stroke in two carriers of disease-associated variant was ischemic lacunar. In 14 carriers of GLA gene variants 11 strokes were ischemic, two TIA, and one ICH. Patients with positive as compared to negative GLA gene screening were younger (mean 60±SD, min, max, vs 70±SD, min, max, P = 0.02), otherwise there were no differences in other baseline variables. Conclusions The prevalence of FD in unselected adult patients with acute stroke is 0.2%. Both patients who had a pathogenic GLA gene variant were younger than 50 years. Our results support FD screening in patients that had a stroke event before 50 years of age.
ER  -

TOMEK, Ales, Petra REKOVÁ, Jaroslava PAULASOVÁ SCHWABOVÁ, Anna OLŠEROVÁ, Miroslav ŠKORŇA, Miroslava NEVŠÍMALOVÁ, Libor ŠIMŮNEK, Roman HERZIG, Štěpánka FAFEJTOVÁ, Petr MIKULENKA, Alena TÁBOŘÍKOVÁ, Jiří NEUMANN, Richard BRZEZNY, Helena SOBOLOVÁ, Jan BARTONÍK, Daniel VÁCLAVÍK, Marta VACHOVÁ, Karel BECHYNĚ, Hana HAVLÍKOVÁ, Tomáš PRAX, Daniel ŠAŇÁK, Irena ČERNÍKOVÁ, Iva ONDEČKOVÁ, Petr PROCHÁZKA, Jan RAJNER, Miroslav ŠKODA, Jan NOVÁK, Ondřej ŠKODA, Mcihal BAR, Robert MIKULÍK, Gabriela DOSTÁLOVÁ a Aleš LINHART. Nationwide screening for Fabry disease in unselected stroke patients. \textit{PLOS ONE}. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2021, roč.~16, č.~12, s.~1-12. ISSN~1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0260601.

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