Clinical management of female patients with Fabry disease based on expert consensus
Abstract Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset p...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03500-7 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841544324946329600 |
|---|---|
| author | Eva Brand Aleš Linhart Patrick Deegan Ruxandra Jurcut Antonio Pisani Roser Torra Ulla Feldt-Rasmussen |
| author_facet | Eva Brand Aleš Linhart Patrick Deegan Ruxandra Jurcut Antonio Pisani Roser Torra Ulla Feldt-Rasmussen |
| author_sort | Eva Brand |
| collection | DOAJ |
| description | Abstract Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype. Most females are hemizygous and the X-linked inheritance is associated with variable X-activation pattern and residual enzymatic activity. The heterogeneity of clinical presentation in females requires different approaches to diagnosis and management than males. A European group of 7 physicians, experienced in the management of Fabry disease, convened to discuss patient perspectives and published guidelines. The experts discussed the need to focus on psychological treatment in relation to individual coping styles when monitoring targets, and the lack of data supporting the use of plasma globotriaosylsphingosine over enzyme activity in the diagnosis of these patients. It was suggested that the high phenotypic variability in female patients may be related to the dynamic nature of the X-chromosome inactivation process and further understanding of this process could help predict the progression of Fabry disease in females and facilitate timely intervention. Due to the range of disease severity they exhibit, female patients with Fabry disease may require a more individualized treatment approach than males. Despite current recommendations, the experts agreed that early disease-specific treatment initiation in high-risk females could improve clinical outcome. |
| format | Article |
| id | doaj-art-e5f1fd403be34bc38e072b62005ef1b7 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-e5f1fd403be34bc38e072b62005ef1b72025-01-12T12:39:29ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-012011910.1186/s13023-024-03500-7Clinical management of female patients with Fabry disease based on expert consensusEva Brand0Aleš Linhart1Patrick Deegan2Ruxandra Jurcut3Antonio Pisani4Roser Torra5Ulla Feldt-Rasmussen6Department of Nephrology, Hypertension and Rheumatology, and Interdisciplinary Fabry Centre Münster (IFAZ), University Hospital Münster2nd Department of Internal Cardiovascular Medicine, General University Hospital, Prague, First Faculty of Medicine, Charles UniversityLysosomal Disorders Unit, Addenbrooke’s HospitalExpert Center for Rare Genetic Cardiovascular Diseases, Institute of Emergency for Cardiovascular Diseases “Prof. Dr. C.C. Iliescu”, University of Medicine and Pharmacy “Carol Davila”Department of Public Health, University Federico II of NapoliInherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Institut Recerca Sant Pau (IR-SANT PAU), Universitat Autònoma de BarcelonaDepartment of Nephrology and Endocrinology, Rigshospitalet, Copenhagen University HospitalAbstract Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype. Most females are hemizygous and the X-linked inheritance is associated with variable X-activation pattern and residual enzymatic activity. The heterogeneity of clinical presentation in females requires different approaches to diagnosis and management than males. A European group of 7 physicians, experienced in the management of Fabry disease, convened to discuss patient perspectives and published guidelines. The experts discussed the need to focus on psychological treatment in relation to individual coping styles when monitoring targets, and the lack of data supporting the use of plasma globotriaosylsphingosine over enzyme activity in the diagnosis of these patients. It was suggested that the high phenotypic variability in female patients may be related to the dynamic nature of the X-chromosome inactivation process and further understanding of this process could help predict the progression of Fabry disease in females and facilitate timely intervention. Due to the range of disease severity they exhibit, female patients with Fabry disease may require a more individualized treatment approach than males. Despite current recommendations, the experts agreed that early disease-specific treatment initiation in high-risk females could improve clinical outcome.https://doi.org/10.1186/s13023-024-03500-7Fabry diseaseFemaleEarly diagnosisEnzyme replacement therapyPatient-reported outcome measures |
| spellingShingle | Eva Brand Aleš Linhart Patrick Deegan Ruxandra Jurcut Antonio Pisani Roser Torra Ulla Feldt-Rasmussen Clinical management of female patients with Fabry disease based on expert consensus Orphanet Journal of Rare Diseases Fabry disease Female Early diagnosis Enzyme replacement therapy Patient-reported outcome measures |
| title | Clinical management of female patients with Fabry disease based on expert consensus |
| title_full | Clinical management of female patients with Fabry disease based on expert consensus |
| title_fullStr | Clinical management of female patients with Fabry disease based on expert consensus |
| title_full_unstemmed | Clinical management of female patients with Fabry disease based on expert consensus |
| title_short | Clinical management of female patients with Fabry disease based on expert consensus |
| title_sort | clinical management of female patients with fabry disease based on expert consensus |
| topic | Fabry disease Female Early diagnosis Enzyme replacement therapy Patient-reported outcome measures |
| url | https://doi.org/10.1186/s13023-024-03500-7 |
| work_keys_str_mv | AT evabrand clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT aleslinhart clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT patrickdeegan clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT ruxandrajurcut clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT antoniopisani clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT rosertorra clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus AT ullafeldtrasmussen clinicalmanagementoffemalepatientswithfabrydiseasebasedonexpertconsensus |