This year’s most-read articles on Fabry disease touched on advancements in therapy, health risks of the disease, and keys to improved diagnosis.
The top 5 most-read Fabry disease articles of 2021 on AJMC.com included new data on treatment efficacy, efforts to boost case identification, and new advancements in therapy for the genetic lysosomal storage disorder.
Here are the top 5 pieces of Fabry disease content in 2021.
5. Overcoming Barriers to Genetic Testing Key to Identifying More Cases of Fabry Disease
This article published in April highlighted a literature review that discussed ways to overcome national and regional barriers to family genetic testing for Fabry disease. Categories of barriers included cost, cultural/societal issues, logistical issues, and communication. The authors of the review noted the potential of live online webinars to answer physicians’ questions about testing for Fabry disease, especially during the COVID-19 pandemic.
4. Patients With Fabry Likely Experience Accelerated Atherosclerosis, Study Finds
Cardiovascular disease is the most common cause of Fabry disease–related morbidity and mortality, and a review that AJMC.com covered in this November article presented case findings from a male patient with Fabry disease who died suddenly with evidence of atherosclerotic coronary artery disease. Microvascular disease may be a driver of the high rate of ischemia in the population with Fabry disease, the review authors noted, and they called for further research on the disease mechanisms involved in order to reduce cardiovascular mortality in Fabry disease.
3. Analysis: Kidney Transplantation in Fabry Disease Has High Success Rate
Fabry disease has no cure, so treatment currently involves enzyme replacement therapy, dialysis, and kidney transplantation. This April article summarized the conclusions of a meta-analysis on the outcomes of kidney transplant in patients with Fabry disease, which found similar rates of all-cause graft failure between patients with the disease and those without. The study authors also concluded that enzyme replacement therapy is warranted following transplantation.
2. Dr Robert Hopkin on Emerging Therapeutic, Technological Advancements in Fabry Disease
In this November interview, Robert J. Hopkin, MD, a clinical geneticist at Cincinnati Children's Hospital Medical Center, discussed current and emerging therapeutic and technological advancements in the management of Fabry disease. He explained the potential of treatments using modified enzymes as opposed to the current standard of unmodified enzymes, and he also covered several promising approaches to gene therapy. Although these advancements will take some time to make their way into clinical practice, Hopkin proclaimed that “it’s an exciting time to be in the field of rare genetic diseases.”
1. New Studies Affirm Safety Profile, Efficacy of Agalsidase Beta in Fabry Disease
Agalsidase beta, a type of enzyme replacement therapy, is effective for Fabry disease, according to study findings covered in this April article. Postauthorization studies conducted in Japan found a safety profile consistent with that seen in earlier studies, and the drug was effective in reducing blood globotriaosylceramide levels in patients of all ages and disease phenotypes. However, the study authors noted the importance of monitoring patients for anti–agalsidase beta antibodies.