A type of bone tissue death called avascular necrosis is a rare and painful complication of Fabry disease that clinicians should be aware of, according to a recent case report. The report described a 41-year-old man with Fabry who experienced severe pain and mobility problems from avascular necrosis, and…
Technologies using artificial intelligence (AI) have the ability to facilitate earlier diagnoses and better treatment for people living with rare conditions such as Fabry disease, according to a new review study by researchers in Europe. In the study, the scientists discussed several ways AI has been applied in…
Distinct groups of inflammatory proteins may contribute to the progression of heart problems in men and women with Fabry disease, a study suggests. While men exhibited a profile associated with a strong pro-inflammatory response, women had a profile that could be linked to accumulating scar tissue. The identified markers…
The case of a South African man diagnosed with hypertrophic cardiomyopathy (HCM), a disease of the heart muscle, who was later found to also have Fabry disease, suggests the rare inherited condition may be an underdiagnosed contributor to HCM, per a report. The researchers say this case “demonstrates the…
In interviews, people living with Fabry disease in Spain reported a number of unmet needs — among them a general dearth of understanding of the condition’s challenges — that negatively impact patient quality of life. Topping the patients’ main concerns were the scant knowledge about Fabry among work colleagues,…
Long-term use of Galafold (migalastat) preserved kidney function and prevented serious organ complications in Fabry disease patients over more than three years of treatment, according to new analyses of data from a real-world patient registry. These patients were on average older and had a relatively severe disease burden,…
It’s critical to conduct thorough clinical evaluations to determine whether a newly identified mutation in the GLA gene is actually causing Fabry disease — before initiating treatment in patients. That’s the message highlighted in a report from Italy describing the case of a woman now in her early 40s whose GLA…
Despite long-term use of enzyme replacement therapy (ERT), a man with Fabry disease in Japan had multiple strokes that led to rapidly worsening cognitive function and psychological issues, according to a case report that illustrates the psychosocial burden that patients may experience. The patient’s worsening cognitive issues made…
More than a third of Fabry disease patients show signs of cardiac disease progression despite use of enzyme replacement therapy (ERT), according to a recent study. An existing diagnosis of the heart disease, called left ventricular hypertrophy (LVH), was found to be the strongest predictor that a person would…
Researchers in England are working toward identifying and addressing barriers to reaching a Fabry disease diagnosis among underrepresented communities, particularly within ethnic minority and low socioeconomic status groups. The project is spearheaded by Richard Steeds, MD, a professor at the University of Birmingham and consultant cardiologist at University Hospitals…
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