The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease
Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical pict...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/3208810 |
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| author | Mónica Furlano Elisabet Ars Anna Matamala Vicens Brossa Joan Martí Maria del Prado-Venegas Jaume Crespi Esther Roe Roser Torra |
| author_facet | Mónica Furlano Elisabet Ars Anna Matamala Vicens Brossa Joan Martí Maria del Prado-Venegas Jaume Crespi Esther Roe Roser Torra |
| author_sort | Mónica Furlano |
| collection | DOAJ |
| description | Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). Conclusions. These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events. |
| format | Article |
| id | doaj-art-9d02ef6a86474dba9e5847b4204719a3 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9d02ef6a86474dba9e5847b4204719a32025-02-03T05:58:00ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/3208810The Benefits of Early versus Late Therapeutic Intervention in Fabry DiseaseMónica Furlano0Elisabet Ars1Anna Matamala2Vicens Brossa3Joan Martí4Maria del Prado-Venegas5Jaume Crespi6Esther Roe7Roser Torra8Inherited Kidney DiseasesMolecular Biology LaboratoryInherited Kidney DiseasesCardiology DepartmentDepartment of Neurology (Stroke Unit)Department of OtorhinolaryngologyOphtalmology DepartmentDermatology DepartmentInherited Kidney DiseasesBackground. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). Conclusions. These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events.http://dx.doi.org/10.1155/2022/3208810 |
| spellingShingle | Mónica Furlano Elisabet Ars Anna Matamala Vicens Brossa Joan Martí Maria del Prado-Venegas Jaume Crespi Esther Roe Roser Torra The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease Case Reports in Genetics |
| title | The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
| title_full | The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
| title_fullStr | The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
| title_full_unstemmed | The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
| title_short | The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
| title_sort | benefits of early versus late therapeutic intervention in fabry disease |
| url | http://dx.doi.org/10.1155/2022/3208810 |
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