Study: Little understanding impacts patient quality of life in Fabry
Results of interview study in Spain reveal key unmet patient needs
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, friends, family, and others in the general population, and little empathy for those living with the disease, according to a study detailing the interview findings.
Delayed diagnoses and a lack of knowledge from medical professionals were also cited as significant concerns.
“The results of this study draw attention to the need to gain more knowledge of this disease as well as to provide support resources based on the needs of these patients … which will help improve their quality of life and promote disease management and treatment,” the researchers wrote.
Their study, “Quality of life and unmet needs in patients with Fabry disease: a qualitative study,” was published in the Orphanet Journal of Rare Diseases.
Study’s focus was on qualitative assessments of patient quality of life
As with any chronic condition, Fabry disease — a rare inherited disorder characterized by the toxic accumulation of a fatty substance called globotriaosylceramide, or Gb3, in the body’s organs — can have a substantial impact on patient life quality.
While treatments are available, people with Fabry may still experience symptoms such as neuropathic pain — pain related to nerve damage — heat intolerance, and heart and kidney problems that interfere with their daily lives.
Studies have explored the disease’s impact on patient quality of life using quantitative measures and standardized scales. However, a team of Spanish researchers instead sought to learn more using qualitative measures.
To that end, the researchers conducted phone interviews with nine adults with the condition and one Fabry patient association representative. Following the interviews, three patients and one relative participated in a focus group to further explore the issue.
The interviewees reported a significant emotional impact of Fabry on themselves and their loved ones. As such, they said they often had feelings of anxiety, depression, anger, and/or frustration, as well as fear or concern about how the disease would evolve.
“I have very severe depression … I don’t have a 100% normal life like other people … my mood is not like other people’s … it is a state of apathy, of sadness … of not being at ease and of feeling empty … of not being able to do everyday things,” one interviewee said.
The patients reported a wide range of adjustments that needed to be made after a Fabry diagnosis, in terms of daily and social activities, work life, and family roles or expectations.
They also showed significant concern when thinking about having children or having existing children tested for Fabry, given the disease’s genetic nature.
To deal with these emotional emotional impacts, patients reported using a variety of different management strategies. Patient associations, in particular, were a valuable resource, offering an opportunity to share experiences with others who understand the Fabry journey.
The need mentioned most by all the participants is to have more information, support, and understanding from people around them and society, improving empathy and raising awareness about the difficulties faced by people with Fabry disease while giving it visibility.
All in all, the number one unmet need for these Fabry patients was the desire for members of the general public — and, importantly, the healthcare community — to better understand Fabry disease and its impact on people living with it.
“The need mentioned most by all the participants is to have more information, support, and understanding from people around them and society, improving empathy and raising awareness about the difficulties faced by people with [Fabry disease] while giving it visibility,” the researchers wrote, adding that “a lack of social understanding is highlighted as one of the main challenges, as this does not only affect the emotional management of the disease but also has repercussions on working life and social relationships.”
Researchers call for improvements in clinical practice, new support strategies
Interviewees commonly reported a lack of understanding and empathy from those around them, including medical professionals, work colleagues, and sometimes friends and family members.
One interviewee said: “This is really important to me, feeling understood, but by people around me in general, society, not just a psychologist, but society in general, your friend, your work colleague, your [neighbor].”
Interviewees also reported a need for faster diagnoses and, after the first Fabry symptoms appear, for doctors to be better educated about the condition.
Before their diagnosis was reached, according to the participants, they’d seen several medical specialists, many of whom had very little information on the topic.
About half of the interviewees indicated they were satisfied with their medical team, but most noted concerns such as lack of communication and information, little empathy, and poor coordination between different members of the healthcare team.
“Interdisciplinary support strategies for the diagnosis of rare diseases must be promoted and translational research facilitated, which would allow a faster diagnosis of patients and guarantee better care for this group,” the researchers wrote.
Other unmet care needs included those related to psychological support and specialized resources like physical therapy, nutrition or dietary support, and family planning resources.
“The findings of this study must be considered as knowledge to be taken into account in clinical practice as well as in legislative measures that promote policies in order to bring about a better quality of life for this group of patients,” the researchers wrote.
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