Awareness of Fabry disease in cardiology

A gap to be filled

Dulce Brito, Nuno Cardim, Luís Rocha Lopes, Adriana Belo, Jorge Mimoso, Lino Gonçalves, Hugo Madeira

Research output: Contribution to journalArticle

Abstract

INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.

METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.

RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.

CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.

Original languageEnglish
Pages (from-to) 457-466
Number of pages10
JournalRevista Portuguesa de Cardiologia
Volume37
Issue number6
Early online date22 May 2018
DOIs
Publication statusPublished - Jun 2018

Fingerprint

Fabry Disease
Cardiology
Hypertrophic Cardiomyopathy
Genetic Testing
Registries
Familial Hypertrophic Cardiomyopathy
Genes
alpha-Galactosidase
Mutation
Left Ventricular Hypertrophy

Keywords

  • Doença de Fabry
  • Fabry disease
  • Hipertrofia ventricular esquerda
  • Hypertrophic cardiomyopathy
  • Left ventricular hypertrophy
  • Miocardiopatia hipertrófica
  • Registo
  • Registry

Cite this

Brito, D., Cardim, N., Lopes, L. R., Belo, A., Mimoso, J., Gonçalves, L., & Madeira, H. (2018). Awareness of Fabry disease in cardiology: A gap to be filled. Revista Portuguesa de Cardiologia, 37(6), 457-466. https://doi.org/10.1016/j.repc.2018.03.010
Brito, Dulce ; Cardim, Nuno ; Lopes, Luís Rocha ; Belo, Adriana ; Mimoso, Jorge ; Gonçalves, Lino ; Madeira, Hugo. / Awareness of Fabry disease in cardiology : A gap to be filled. In: Revista Portuguesa de Cardiologia. 2018 ; Vol. 37, No. 6. pp. 457-466.
@article{780dd291f3374172b6c15622cc6e10f4,
title = "Awareness of Fabry disease in cardiology: A gap to be filled",
abstract = "INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9{\%}) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8{\%}) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4{\%}) male, with negative genetic testing; and C - 449 patients, 266 (59.2{\%}) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9{\%} vs. B - 20.1{\%} vs. C - 18.3{\%}; p <0.001). FD was recorded as excluded in 217 (26.8{\%}), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6{\%}, B - 25.7{\%}, p = 0.019; C - 13.4{\%}, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18{\%}) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7{\%} underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.",
keywords = "Doen{\cc}a de Fabry, Fabry disease, Hipertrofia ventricular esquerda, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Miocardiopatia hipertr{\'o}fica, Registo, Registry",
author = "Dulce Brito and Nuno Cardim and Lopes, {Lu{\'i}s Rocha} and Adriana Belo and Jorge Mimoso and Lino Gon{\cc}alves and Hugo Madeira",
note = "Copyright {\circledC} 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier Espa{\~n}a, S.L.U. All rights reserved.",
year = "2018",
month = "6",
doi = "10.1016/j.repc.2018.03.010",
language = "English",
volume = "37",
pages = "457--466",
journal = "Revista Portuguesa de Cardiologia",
issn = "0870-2551",
publisher = "Sociedade Portuguesa de Cardiologia",
number = "6",

}

Brito, D, Cardim, N, Lopes, LR, Belo, A, Mimoso, J, Gonçalves, L & Madeira, H 2018, 'Awareness of Fabry disease in cardiology: A gap to be filled', Revista Portuguesa de Cardiologia, vol. 37, no. 6, pp. 457-466. https://doi.org/10.1016/j.repc.2018.03.010

Awareness of Fabry disease in cardiology : A gap to be filled. / Brito, Dulce; Cardim, Nuno; Lopes, Luís Rocha; Belo, Adriana; Mimoso, Jorge; Gonçalves, Lino; Madeira, Hugo.

In: Revista Portuguesa de Cardiologia, Vol. 37, No. 6, 06.2018, p. 457-466.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Awareness of Fabry disease in cardiology

T2 - A gap to be filled

AU - Brito, Dulce

AU - Cardim, Nuno

AU - Lopes, Luís Rocha

AU - Belo, Adriana

AU - Mimoso, Jorge

AU - Gonçalves, Lino

AU - Madeira, Hugo

N1 - Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

PY - 2018/6

Y1 - 2018/6

N2 - INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.

AB - INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.

KW - Doença de Fabry

KW - Fabry disease

KW - Hipertrofia ventricular esquerda

KW - Hypertrophic cardiomyopathy

KW - Left ventricular hypertrophy

KW - Miocardiopatia hipertrófica

KW - Registo

KW - Registry

U2 - 10.1016/j.repc.2018.03.010

DO - 10.1016/j.repc.2018.03.010

M3 - Article

VL - 37

SP - 457

EP - 466

JO - Revista Portuguesa de Cardiologia

JF - Revista Portuguesa de Cardiologia

SN - 0870-2551

IS - 6

ER -