Doctors Underplay Impact of Fabry Symptoms on Life Quality: Study

Perception 'gap' between clinicians, patients on sweating, other problems

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Doctors who treat Fabry disease tend to underappreciate the effect that symptoms like abnormal sweating and digestive complaints can have on a person’s quality of life, according to a new study conducted in Japan.

The study also highlighted a disconnect in communication between doctors and patients when it comes to discussing the pros and cons of different treatments for Fabry.

“This survey revealed a gap in the perception of disease burden affecting patients’ quality of life, and a recognition gap between physicians and patients when they discussed the advantages and disadvantages of treatment options,” the researchers wrote.

The investigators called for “practical solutions for bridging these gaps,” with a goal toward helping “to improve the [shared decision making] process in Fabry disease management and treatment.”

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The study, “Shared decision making between patients with Fabry disease and physicians in Japan: An online survey,” was published in Molecular Genetics and Metabolism Reports.

The work was funded by Amicus Therapeutics, which markets the approved Fabry treatment Galafold (migalastat).

Managing Fabry disease symptoms

A chronic condition like Fabry requires lifelong care, which works best when doctors and patients together figure out the best management strategy for dealing with disease symptoms.

To investigate real-world disease management, scientists at Amicus and academic institutions conducted a survey of doctors and Fabry patients in Japan. Their aim was to better understand how treatment decisions are made.

The survey was answered by 30 patients and 90 doctors. All of the patients and 13 doctors also completed a paired survey, in which they were given a standardized assessment of perceptions about shared decision-making, called the SDM questionnaire. Specifically, patients were assessed with the SDM-Q-9, while the SDM-Q-Doc was used for physicians.

“To our knowledge, this is the first study to evaluate the communication between patients with Fabry disease and physicians using the SDM questionnaire,” the team noted.

Among the patients, the average age at the time of the survey was 52.2 years, and the average age at disease diagnosis was 47.5 years. A total of 46.7% of the participants were male. Most of the paired doctors were male and in their 40s.

The symptoms of Fabry disease that patients most commonly reported as negatively impacting their life quality were sweating abnormalities (44.4%) and gastrointestinal symptoms (38.9%). Cardiac symptoms and acroparesthesia — feelings of prickling or tingling in the extremities — were each reported as affecting life quality in 33.3% of patients.

By comparison, the most common symptoms that doctors said would impact life quality were acroparesthesia, cardiac symptoms, and problems related to blood flow in the brain. Only two doctors noted digestive symptoms as impacting patients’ quality of life, and none of the doctors noted sweating abnormalities — this despite the fact that it was the most common symptom reported by patients to affect their life quality.

“We observed that sweating abnormalities, which have not been well investigated previously, were an important symptom in terms of impact on the patients’ QoL [quality of life],” the researchers wrote.

The team also noted that prior research has found that about half of Fabry patients experience digestive symptoms.

“Thus, in addition to acroparesthesia, attention should be paid to gastrointestinal symptoms,” they wrote.

Overall scores on the SDM were generally similar for physicians and patients. Scores related to understanding of Fabry disease and satisfaction with treatment also were comparable in both groups.

However, there was a notable gap between the groups when it came to discussing the potential pros and cons of different treatments.

“The paired SDM questionnaire analysis revealed a considerable perception gap between patients and physicians when they discussed the advantages and disadvantages of the treatment options,” the researchers wrote.

There now are four approved therapies for Fabry disease in Japan — which, the researchers noted, may have added complexity to these discussions. The team stressed that, as additional new treatments are developed, these discussions likely will become even more complicated.

“Therefore, in Fabry disease, it is essential to consider concrete measures to improve the [shared treatment decision-making] process, such as developing decision aids specific to Fabry disease treatment and adjunctive therapy in collaboration with physicians, industry, and patients,” the scientists concluded.

The team noted that this study is limited by a relatively small number of patients and physicians, as well as the inherent restrictions of doing research via an online survey. They also said that, as all participants in the survey were in Japan, the results may not be applicable elsewhere.