The Spanish Fabry women study
Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that female...
| Autores: | , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:303909 |
| Acceso en línea: | https://ddd.uab.cat/record/303909 https://dx.doi.org/urn:doi:10.1186/s13023-022-02599-w |
| Access Level: | acceso abierto |
| Palabra clave: | Fabry disease Females GLA variants Organ involvement X-linked disorder |
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The Spanish Fabry women studya retrospective observational study describing the phenotype of females with GLA variantsSánchez Martínez, Rosario|||0000-0003-0408-3029Ripoll-Vera, Tomás|||0000-0001-9222-325XLópez-Mendoza, M.|||0000-0002-6544-533Xde Juan-Ribera, JoaquínGimeno-Blanes, Juan R.|||0000-0001-5818-1754Hermida-Ameijeiras, Alvaro|||0000-0003-3757-262XRuz-Zafra, María AuroraTorregrosa, Josep Vicens|||0000-0001-5160-3248Mora, AntoniaGarcía Pinilla, José Manuel|||0000-0001-5999-5741Fortuny, ElenaAguinaga-Barrilero, AnaTorra Balcells, Roser|||0000-0001-8714-2332Fabry diseaseFemalesGLA variantsOrgan involvementX-linked disorderFabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort. Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50.1 ± 17.2 years. Median follow-up time from GLA variant identification was 36.1 months, and most (70.1%) were identified through family screening. Variants associated with classic/non-classic phenotypes were similarly distributed (40.2%/53.6%). Missense variants were the most prevalent (n = 84, 86.6%). In the overall group, 70.4% had major organ involvement (i.e., cardiac, renal, cerebrovascular, peripheral nervous system or gastrointestinal), and 47.3% also had typical Fabry signs (angiokeratoma, cornea verticillata or increased plasma lyso-Gb3). Cardiac involvement was the most prevalent (49.5%) and the main reason for treatment initiation. A total of 33 (34%) patients received disease-specific therapy, 55% of whom were diagnosed by family screening. Females carrying variants associated with a classic phenotype had higher frequencies of clinical manifestations (92.3%) and were predominant in the treated subgroup (69.7%). Despite this, there were 34 untreated females (56.7% of total untreated), with both phenotypes represented, who had major organ involvement, with 27 of cardiac, renal or cerebrovascular nature. Age or comorbidities in this subgroup were comparable to the treated subgroup (P = 0.8 and P = 0.8, respectively). Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation.Universitat Autònoma de Barcelona 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/303909https://dx.doi.org/urn:doi:10.1186/s13023-022-02599-wreponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3039092026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
The Spanish Fabry women study a retrospective observational study describing the phenotype of females with GLA variants |
| title |
The Spanish Fabry women study |
| spellingShingle |
The Spanish Fabry women study Sánchez Martínez, Rosario|||0000-0003-0408-3029 Fabry disease Females GLA variants Organ involvement X-linked disorder |
| title_short |
The Spanish Fabry women study |
| title_full |
The Spanish Fabry women study |
| title_fullStr |
The Spanish Fabry women study |
| title_full_unstemmed |
The Spanish Fabry women study |
| title_sort |
The Spanish Fabry women study |
| dc.creator.none.fl_str_mv |
Sánchez Martínez, Rosario|||0000-0003-0408-3029 Ripoll-Vera, Tomás|||0000-0001-9222-325X López-Mendoza, M.|||0000-0002-6544-533X de Juan-Ribera, Joaquín Gimeno-Blanes, Juan R.|||0000-0001-5818-1754 Hermida-Ameijeiras, Alvaro|||0000-0003-3757-262X Ruz-Zafra, María Aurora Torregrosa, Josep Vicens|||0000-0001-5160-3248 Mora, Antonia García Pinilla, José Manuel|||0000-0001-5999-5741 Fortuny, Elena Aguinaga-Barrilero, Ana Torra Balcells, Roser|||0000-0001-8714-2332 |
| author |
Sánchez Martínez, Rosario|||0000-0003-0408-3029 |
| author_facet |
Sánchez Martínez, Rosario|||0000-0003-0408-3029 Ripoll-Vera, Tomás|||0000-0001-9222-325X López-Mendoza, M.|||0000-0002-6544-533X de Juan-Ribera, Joaquín Gimeno-Blanes, Juan R.|||0000-0001-5818-1754 Hermida-Ameijeiras, Alvaro|||0000-0003-3757-262X Ruz-Zafra, María Aurora Torregrosa, Josep Vicens|||0000-0001-5160-3248 Mora, Antonia García Pinilla, José Manuel|||0000-0001-5999-5741 Fortuny, Elena Aguinaga-Barrilero, Ana Torra Balcells, Roser|||0000-0001-8714-2332 |
| author_role |
author |
| author2 |
Ripoll-Vera, Tomás|||0000-0001-9222-325X López-Mendoza, M.|||0000-0002-6544-533X de Juan-Ribera, Joaquín Gimeno-Blanes, Juan R.|||0000-0001-5818-1754 Hermida-Ameijeiras, Alvaro|||0000-0003-3757-262X Ruz-Zafra, María Aurora Torregrosa, Josep Vicens|||0000-0001-5160-3248 Mora, Antonia García Pinilla, José Manuel|||0000-0001-5999-5741 Fortuny, Elena Aguinaga-Barrilero, Ana Torra Balcells, Roser|||0000-0001-8714-2332 |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| dc.subject.none.fl_str_mv |
Fabry disease Females GLA variants Organ involvement X-linked disorder |
| topic |
Fabry disease Females GLA variants Organ involvement X-linked disorder |
| description |
Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort. Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50.1 ± 17.2 years. Median follow-up time from GLA variant identification was 36.1 months, and most (70.1%) were identified through family screening. Variants associated with classic/non-classic phenotypes were similarly distributed (40.2%/53.6%). Missense variants were the most prevalent (n = 84, 86.6%). In the overall group, 70.4% had major organ involvement (i.e., cardiac, renal, cerebrovascular, peripheral nervous system or gastrointestinal), and 47.3% also had typical Fabry signs (angiokeratoma, cornea verticillata or increased plasma lyso-Gb3). Cardiac involvement was the most prevalent (49.5%) and the main reason for treatment initiation. A total of 33 (34%) patients received disease-specific therapy, 55% of whom were diagnosed by family screening. Females carrying variants associated with a classic phenotype had higher frequencies of clinical manifestations (92.3%) and were predominant in the treated subgroup (69.7%). Despite this, there were 34 untreated females (56.7% of total untreated), with both phenotypes represented, who had major organ involvement, with 27 of cardiac, renal or cerebrovascular nature. Age or comorbidities in this subgroup were comparable to the treated subgroup (P = 0.8 and P = 0.8, respectively). Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2 2023-01-01 2023 2023-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/303909 https://dx.doi.org/urn:doi:10.1186/s13023-022-02599-w |
| url |
https://ddd.uab.cat/record/303909 https://dx.doi.org/urn:doi:10.1186/s13023-022-02599-w |
| dc.language.none.fl_str_mv |
Inglés eng |
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Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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