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Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach
(1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants. (2) Methods: 49 participants (mean age 44.3 ± 14.2 ye...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146284/ https://www.ncbi.nlm.nih.gov/pubmed/35629291 http://dx.doi.org/10.3390/life12050623 |
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author | Monte, Marco Angelo Veroux, Massimiliano Rodolico, Margherita Stefania Losi, Valentina Di Pino, Luigi Bella, Rita Lanza, Giuseppe Monte, Ines Paola |
author_facet | Monte, Marco Angelo Veroux, Massimiliano Rodolico, Margherita Stefania Losi, Valentina Di Pino, Luigi Bella, Rita Lanza, Giuseppe Monte, Ines Paola |
author_sort | Monte, Marco Angelo |
collection | PubMed |
description | (1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants. (2) Methods: 49 participants (mean age 44.3 ± 14.2 years; 37 females), underwent a multidimensional clinical and instrumental assessment. (3) Results: At diagnosis, mean enzymatic activity was 5.2 ± 4.6 nM/mL/h in females and 1.4 ± 0.5 nM/mL/h in males (normal values > 3.0), whereas globotriaosylsphingosine was 2.3 ± 2.1 nM/L in females and 28.7 ± 3.5 nM/L in males (normal values < 2.0). Overall, cardiovascular, neurological, and audiological systems were the most involved, regardless of the variant detected. Patients with classic variants (10) showed typical multiorgan involvement and, in some cases, prevalent organ damage (cardiovascular, neurological, renal, and ocular). Those with late-onset variants (39) exhibited lower occurrence of multiorgan impairment, although some of them affected the cardiovascular and neurological systems more. In patients with lower enzymatic activity, the most frequent involvement was neurological, followed by peripheral vascular disease. (4) Conclusions: FD patients exhibited wide phenotypic variability, even at single-organ level, likely due to the individual genetic mutation, although other factors may contribute. Compared to the conventional management, a multidisciplinary approach, as that prompted at our Center, allows one to achieve early clinical detection and management. |
format | Online Article Text |
id | pubmed-9146284 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91462842022-05-29 Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach Monte, Marco Angelo Veroux, Massimiliano Rodolico, Margherita Stefania Losi, Valentina Di Pino, Luigi Bella, Rita Lanza, Giuseppe Monte, Ines Paola Life (Basel) Communication (1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants. (2) Methods: 49 participants (mean age 44.3 ± 14.2 years; 37 females), underwent a multidimensional clinical and instrumental assessment. (3) Results: At diagnosis, mean enzymatic activity was 5.2 ± 4.6 nM/mL/h in females and 1.4 ± 0.5 nM/mL/h in males (normal values > 3.0), whereas globotriaosylsphingosine was 2.3 ± 2.1 nM/L in females and 28.7 ± 3.5 nM/L in males (normal values < 2.0). Overall, cardiovascular, neurological, and audiological systems were the most involved, regardless of the variant detected. Patients with classic variants (10) showed typical multiorgan involvement and, in some cases, prevalent organ damage (cardiovascular, neurological, renal, and ocular). Those with late-onset variants (39) exhibited lower occurrence of multiorgan impairment, although some of them affected the cardiovascular and neurological systems more. In patients with lower enzymatic activity, the most frequent involvement was neurological, followed by peripheral vascular disease. (4) Conclusions: FD patients exhibited wide phenotypic variability, even at single-organ level, likely due to the individual genetic mutation, although other factors may contribute. Compared to the conventional management, a multidisciplinary approach, as that prompted at our Center, allows one to achieve early clinical detection and management. MDPI 2022-04-22 /pmc/articles/PMC9146284/ /pubmed/35629291 http://dx.doi.org/10.3390/life12050623 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Communication Monte, Marco Angelo Veroux, Massimiliano Rodolico, Margherita Stefania Losi, Valentina Di Pino, Luigi Bella, Rita Lanza, Giuseppe Monte, Ines Paola Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title | Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title_full | Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title_fullStr | Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title_full_unstemmed | Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title_short | Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach |
title_sort | fabry’s disease: the utility of a multidisciplinary screening approach |
topic | Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146284/ https://www.ncbi.nlm.nih.gov/pubmed/35629291 http://dx.doi.org/10.3390/life12050623 |
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