Molecular Genetics and Metabolism | VOL. 137
Read

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

Publication Date Sep 1, 2022

Abstract

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs. In contrast, in later-onset Fabry disease, patients have residual α-Gal A activity and clinical features are primarily confined to the heart. Individualized therapeutic goals in Fabry disease are required due to varying phenotypes and patient characteristics, and the wide spectrum of disease severity. An international group of expert physicians convened to discuss and develop practical clinical recommendations for disease- and organ-specific therapeutic goals in Fabry disease, based on expert consensus and evidence identified through a structured literature review. Biomarkers reflecting involvement of various organs in adult patients with classic Fabry disease are discussed and consensus recommendations for disease- and organ-specific therapeutic goals are provided. These consensus recommendations should support the establishment of individualized approaches to the management of patients with classic Fabry disease by considering identification, diagnosis, and initiation of disease-specific therapies before significant organ involvement, as well as routine monitori...

Concepts

Classic Fabry Disease Fabry Disease Later-onset Fabry Disease Patient Health-related Quality Of Life Expert Consensus Accumulation Of Glycosphingolipids Structured Literature Review Later-onset Phenotypes Reduced Life Expectancy Practical Clinical Recommendations

Round-ups are the summaries of handpicked papers around trending topics published every week. These would enable you to scan through a collection of papers and decide if the paper is relevant to you before actually investing time into reading it.

Coronavirus Research Articles published between Nov 28, 2022 to Dec 04, 2022

R DiscoveryDec 05, 2022
R DiscoveryArticles Included:  5

The coronavirus disease 2019 (COVID-19) is a contagious disease that is caused by a novel coronavirus. Bentham is offering subject-based scholarly con...

Read More

Climate change Research Articles published between Nov 28, 2022 to Dec 04, 2022

R DiscoveryDec 05, 2022
R DiscoveryArticles Included:  5

We use cookies to improve your website experience. To learn about our use of cookies and how you can manage your cookie settings, please see our Cooki...

Read More

Quality Of Education Research Articles published between Nov 28, 2022 to Dec 04, 2022

R DiscoveryDec 05, 2022
R DiscoveryArticles Included:  4

Introduction: The Internet is an extensively used source of medical education by the public. YouTube is a valuable source of information which can be ...

Read More

Gender Equality Research Articles published between Nov 28, 2022 to Dec 04, 2022

R DiscoveryDec 05, 2022
R DiscoveryArticles Included:  3

Gender equity in the classroom is important for teachers to think about in order to ensure they are creating safe environments that allow their studen...

Read More

Coronavirus Pandemic

You can also read COVID related content on R COVID-19

R ProductsCOVID-19

ONE PROBLEM . ONE PURPOSE . ONE PLACE

Creating the world’s largest AI-driven & human-curated collection of research, news, expert recommendations and educational resources on COVID-19

COVID-19 Dashboard

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on “as is” basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The Copyright Law.