Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy
| العنوان: | Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy |
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| المؤلفون: | Roser Torra, Joaquín Serena, Miguel Ángel Barba-Romero, Vicente Climent, Josep Puig, Victor Valverde C, Rafael Huertas, José Antonio Herrero |
| المصدر: | MEDICINA CLINICA r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante instname r-FISABIO. Repositorio Institucional de Producción Científica r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) |
| بيانات النشر: | Elsevier BV, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Adult, medicine.medical_specialty, Pediatrics, Adolescent, Disease, Sintomatología neurológica, Asymptomatic, Young Adult, Enfermedad de Anderson-Fabry, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Epidemiology, medicine, Humans, Enzyme Replacement Therapy, 030212 general & internal medicine, Anderson-Fabry disease, Depression (differential diagnoses), Aged, business.industry, Enzyme replacement therapy, Neurological symptomatology, General Medicine, Middle Aged, medicine.disease, Fabry disease, Cross-Sectional Studies, Fabry Disease, Anxiety, Female, Anderson-Fabry disease, Enfermedad de Anderson-Fabry, Enzyme replacement therapy, Neurological symptomatology, Sintomatología neurológica, Terapia de sustitución enzimática, medicine.symptom, business, Terapia de sustitución enzimática |
| الوصف: | Introduction and objective Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT). Material and methods An epidemiological, cross-sectional, descriptive and multicentre study was assessed in women diagnosed for FD who were not receiving ERT. Assessments on symptomatology and severity were collected using several clinical questionnaires. Additionally, clinical information and lab tests were obtained from clinical records. Results Thirty-three women with a mean age of 45.6 ± 16.2 years were studied. Symptom onset was at a median age of 35.5 years old (range: 30.0–51.5), being diagnosed a median of 2 years later (range: 1.0–1.5). Missense mutations were the most prevalent mutation (n = 22, 68.8%). Although 69% considered themselves as asymptomatic, 22 (66.7%) showed at least one FD-related clinical symptom. Using Mainz Severity Score index and Fabry International Prognosis Index neurological symptomatology obtained higher scores both for severity and prognostic. The EQ-5D questionnaire showed 42.2% patients referring to some anxiety or depression, and 30.3% thought that their life was somehow altered by the pain. 62.5% were not receiving any treatment and ERT was offered only to one patient (3.6%) who refused it. Conclusions Although most of the heterozygous women for FD had not received ERT or either symptomatic treatment, they present symptoms of disease. Careful follow-up of female patients or some adjuvant treatment may be considered to delay progressive organ damage and improve patient quality of life. |
| تدمد: | 0025-7753 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0bbc68f44b1814864e82fe5c999071Test https://doi.org/10.1016/j.medcli.2018.10.039Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ec0bbc68f44b1814864e82fe5c999071 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00257753 |
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