The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status
Abstract Background Fabry disease is an X‐linked lysosomal storage disorder with heterogeneous clinical expression in female patients ranging from asymptomatic to severe clinical presentations as in classic males. We assessed clinical profiles and compared natural history data of female patients eve...
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doaj-aae6366561b149fab977b0cf7610722f2020-11-25T00:51:29ZengWileyJIMD Reports2192-83122019-09-0149110711710.1002/jmd2.12071The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy statusAna M. Martins0Gustavo Cabrera1Fernando Molt2Fernando Suárez‐Obando3Régulo A. Valdés4Carmen Varas5Meng Yang6Juan M. Politei7Reference Center for Inborn Errors of Metabolism Federal University of São Paulo São Paulo SP BrazilCentro Médico Santa María de la Salud Buenos Aires ArgentinaDepartamento de Clínicas, Facultad de Medicina Universidad Católica del Norte Coquimbo ChileInstituto de Genética Humana, Facultad de Medicina, Hospital Universitario San Ignacio Pontificia Universidad Javeriana Bogota ColombiaNational Dialysis Coordinator of Social Security of Panama Panama City PanamaFabry Disease Multidisciplinary Team Hospital San Pablo de Coquimbo Coquimbo ChileSanofi Genzyme Cambridge MassachusettsDepartment of Neurology Fundación Para el Estudio de Enfermedades Neurometabólicas (FESEN) Buenos Aires ArgentinaAbstract Background Fabry disease is an X‐linked lysosomal storage disorder with heterogeneous clinical expression in female patients ranging from asymptomatic to severe clinical presentations as in classic males. We assessed clinical profiles and compared natural history data of female patients eventually initiated on enzyme replacement therapy (“ERT‐recipients”) with those remaining untreated (“ERT‐naïve”). Methods We analyzed Fabry Registry data from 93 ERT‐recipients, collected prior to ERT initiation, and 76 ERT‐naïve females with classic or unclassified phenotypes from four Latin American countries and evaluated Fabry symptoms, interventricular septum thickness, left ventricular posterior wall thickness, estimated glomerular filtration rate, and severe clinical events. Results For 169 patients with available data, median age of first Fabry symptom manifestation was 12.7 years with peripheral pain as predominant first symptom, and diagnostic delay of 10.3 years from the first reported symptom. Female patients had high symptomatic burden during natural history follow‐up, with 83% reporting peripheral pain, 69%‐79% cold/heat intolerance or abnormal sweating, and 32% gastrointestinal symptoms. ERT‐recipients reported similar age at first symptom as ERT‐naïve patients but they were older at diagnosis (median 39.2 vs 24.4 years, P < .01) and last follow‐up (median 43.4 vs 28.2 years, P < .01). Reported Fabry symptom frequencies and abnormal echocardiography findings were higher in ERT‐recipients. Functional renal assessments were normal and similar. Conclusions Female patients from Latin America have notable diagnostic delays and high symptomatic burden. ERT was prescribed late in females with advanced age at diagnosis and advanced disease. There remained many female patients who had been diagnosed at younger age, had substantial Fabry manifestations, but did not receive disease‐specific treatment.https://doi.org/10.1002/jmd2.12071diagnostic delayenzyme replacement therapyFabry diseasefemalesLatin Americaregistry |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ana M. Martins Gustavo Cabrera Fernando Molt Fernando Suárez‐Obando Régulo A. Valdés Carmen Varas Meng Yang Juan M. Politei |
spellingShingle |
Ana M. Martins Gustavo Cabrera Fernando Molt Fernando Suárez‐Obando Régulo A. Valdés Carmen Varas Meng Yang Juan M. Politei The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status JIMD Reports diagnostic delay enzyme replacement therapy Fabry disease females Latin America registry |
author_facet |
Ana M. Martins Gustavo Cabrera Fernando Molt Fernando Suárez‐Obando Régulo A. Valdés Carmen Varas Meng Yang Juan M. Politei |
author_sort |
Ana M. Martins |
title |
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
title_short |
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
title_full |
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
title_fullStr |
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
title_full_unstemmed |
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
title_sort |
clinical profiles of female patients with fabry disease in latin america: a fabry registry analysis of natural history data from 169 patients based on enzyme replacement therapy status |
publisher |
Wiley |
series |
JIMD Reports |
issn |
2192-8312 |
publishDate |
2019-09-01 |
description |
Abstract Background Fabry disease is an X‐linked lysosomal storage disorder with heterogeneous clinical expression in female patients ranging from asymptomatic to severe clinical presentations as in classic males. We assessed clinical profiles and compared natural history data of female patients eventually initiated on enzyme replacement therapy (“ERT‐recipients”) with those remaining untreated (“ERT‐naïve”). Methods We analyzed Fabry Registry data from 93 ERT‐recipients, collected prior to ERT initiation, and 76 ERT‐naïve females with classic or unclassified phenotypes from four Latin American countries and evaluated Fabry symptoms, interventricular septum thickness, left ventricular posterior wall thickness, estimated glomerular filtration rate, and severe clinical events. Results For 169 patients with available data, median age of first Fabry symptom manifestation was 12.7 years with peripheral pain as predominant first symptom, and diagnostic delay of 10.3 years from the first reported symptom. Female patients had high symptomatic burden during natural history follow‐up, with 83% reporting peripheral pain, 69%‐79% cold/heat intolerance or abnormal sweating, and 32% gastrointestinal symptoms. ERT‐recipients reported similar age at first symptom as ERT‐naïve patients but they were older at diagnosis (median 39.2 vs 24.4 years, P < .01) and last follow‐up (median 43.4 vs 28.2 years, P < .01). Reported Fabry symptom frequencies and abnormal echocardiography findings were higher in ERT‐recipients. Functional renal assessments were normal and similar. Conclusions Female patients from Latin America have notable diagnostic delays and high symptomatic burden. ERT was prescribed late in females with advanced age at diagnosis and advanced disease. There remained many female patients who had been diagnosed at younger age, had substantial Fabry manifestations, but did not receive disease‐specific treatment. |
topic |
diagnostic delay enzyme replacement therapy Fabry disease females Latin America registry |
url |
https://doi.org/10.1002/jmd2.12071 |
work_keys_str_mv |
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