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.

Basic information

Original name

Nationwide screening for Fabry disease in unselected stroke patients

Authors

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

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.752

RIV identification code

RIV/00216224:14110/21:00124284

Organization unit

Faculty of Medicine

DOI

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

UT WoS

000754615500008

Keywords in English

Fabry disease; stroke patients; screening

Abstract

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.

Links

90128, large research infrastructures

Name: 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 and Aleš LINHART. Nationwide screening for Fabry disease in unselected stroke patients. PLOS ONE. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2021, vol. 16, No 12, p. 1-12. ISSN 1932-6203. Available from: 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 and Aleš LINHART. Nationwide screening for Fabry disease in unselected stroke patients. \textit{PLOS ONE}. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2021, vol.~16, No~12, p.~1-12. ISSN~1932-6203. Available from: https://dx.doi.org/10.1371/journal.pone.0260601.

Detailed Information on Publication Record