Attitudes toward treatment vary by gender in Fabry disease, data shows
Beliefs should be considered in counseling, creating treatments: Researchers
People with different lysosomal storage diseases have varying beliefs about prescribed medicines, which reflect their current medical needs, a study has found. Particularly, attitudes toward treatment in Fabry disease vary according to gender and are different in Fabry and other related disorders.
According to researchers, these beliefs should be considered in personal counseling and when creating new treatments.
The study, “Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient‐Centered Approach,” was published in JIMD Reports.
Fabry disease is a lysosomal storage disorder, meaning a type of genetic disease in which the body’s ability to break down certain waste products is impaired. Specifically, Fabry is caused by mutations in the gene that provides instructions to make the alpha-galactosidase A (alpha-Gal A) enzyme, which is normally needed to break down certain fatty molecules. In Fabry, reduced functionality of this enzyme causes the fatty molecules to build up to toxic levels.
Some types of lysosomal storage disorders, such as Gaucher disease, have highly effective treatments that can address the underlying cause of disease with very good reliability. For other lysosomal storage like Sanfilippo syndrome, there are no treatments available that can address the disease’s underlying cause.
Fabry disease falls somewhere in between these two extremes — there are treatments for Fabry available, but their efficacy isn’t as reliable as treatments for Gaucher disease.
Ranking patient, caregiver attitudes toward treatment
In this study, researchers in the Netherlands wanted to explore attitudes toward treatments for people with different types of lysosomal storage disorders. The researchers conducted a survey of people with Gaucher, Fabry, or caregivers of people with Sanfilippo syndrome.
“To our knowledge, this is the first study on perceptions of current therapy options among people with” lysosomal storage diseases, the researchers wrote.
As part of the survey, participants answered a series of questions that ranked their attitudes toward treatment on two scales: necessity, rating how much they felt they needed treatment, and concern, how worried they were about treatment having side effects or not working well.
Respondents with Gaucher disease, which has highly effective treatments available, generally ranked high for necessity but low for concern. For Sanfilippo, which doesn’t have any disease-modifying therapies available, respondents ranked low for concern but also low for necessity.
“The perceptions of people with different [lysosomal storage diseases] toward their medicine varied strongly between disease groups,” the researchers wrote.
In Fabry disease, there was a division based on gender. In female Fabry patients, the scores for necessity were more evenly spread out compared to other groups, with most leaning toward high scores. Most had low concern about the medicine, but more of them had concerns compared to those with Gaucher disease.
In male Fabry patients, the high necessity and low concern scores were similar to those in Gaucher disease, but 27% had high concern scores — meaning patients felt they needed treatment but also had substantial worries about treatment.
Fabry disease is generally more severe in male patients because the mutation causing it affects a gene on the X chromosome. Biological males have only one X chromosome whereas biological females have two, so females usually have a second healthy copy of the gene that can compensate somewhat for the mutated gene.
Overall, the attitudes of people with different types of lysosomal storage disorders lined up with the availability of effective treatments, with Gaucher on one extreme, Sanfilippo on the other, and Fabry falling in between. As such, the researchers said the questionnaire used in their survey, called the Beliefs about Medicines Questionnaire (BMQ), “realistically represented the differences in how well medical needs are currently met for different” lysosomal storage disorders.
“We argue that tools such as the BMQ can and should be used to take an individual’s preexisting beliefs into consideration during counseling on therapeutic options and to align novel therapy development with a nuanced view of patients’ perspectives,” the scientists wrote.
About the Author
