Patient-doctor perception gaps could affect Fabry disease management
Study highlights need for improved patient education, shared decision-making
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People with Fabry disease and their doctors often view important aspects of diagnosis and treatment differently, and these perception gaps could contribute to suboptimal disease management, according to a survey from South Korea.
While both groups agreed on the importance of an accurate diagnosis and genetic counseling for family members, patients were more concerned about the diagnostic process itself and were far less likely than clinicians to support taking certain kidney-protective medications without strong disease-specific evidence. Clinicians also placed greater importance on several treatment goals than patients did, including slowing heart and brain decline.
These perception gaps could influence treatment adherence and, ultimately, clinical outcomes, highlighting “the need for improved patient education and shared decision-making,” researchers wrote.
The study, “Perception and knowledge of Fabry disease: a comparative survey of patients and medical professionals in South Korea,” was published in Scientific Reports.
Delayed Fabry diagnosis remains common
A rare genetic disorder, Fabry disease is caused by mutations that reduce the activity of an enzyme needed for breaking down certain fatty molecules. As these substances build up in cells, they progressively damage multiple tissues and organs, including the kidneys, heart, and nervous system.
In South Korea, about 200 to 300 people have been diagnosed with Fabry disease, although researchers estimate that more than 1,000 people may actually be living with the condition. Delayed diagnosis remains common in South Korea and worldwide because symptoms vary widely, are often nonspecific, and may be mistaken for other conditions, the researchers noted.
Early Fabry treatment with enzyme replacement therapy (ERT) or chaperone therapy, along with medications to manage disease complications affecting organs such as the kidneys and heart, can help slow disease progression and improve prognosis.
However, “differences between patients and clinicians in perceptions of disease burden, treatment priorities, and the value of adjunctive therapies may result in discordant expectations and suboptimal adherence,” the researchers wrote. “Understanding these differences is essential to promote shared decision-making, enhance treatment adherence, and improve clinical outcomes.”
Obtaining accurate diagnosis most important goal of doctors, patients
To identify these perception gaps, the researchers conducted a questionnaire-based survey administered online between March and December 2023. The survey included 25 people with Fabry disease and 27 doctors specializing in kidney disease who had experience with or an interest in Fabry disease. An additional 33 people with chronic kidney disease without a known genetic cause served as a comparison group for some questions.
Participants completed separate questionnaires designed to compare patients’ and clinicians’ views on diagnosis, treatment strategies, and genetic counseling.
Both patients and kidney specialists agreed that obtaining an accurate diagnosis was the most important goal of testing. However, patients were significantly more concerned than clinicians about the testing process itself. Pain from blood draws and the risk of blood loss were rated as important by 17.4% and 26.1% of people with Fabry disease, respectively, compared with just 3.7% of clinicians.
The researchers said these findings suggest “clinicians may underestimate the procedural anxiety experienced by patients,” and indicate that “addressing patient concerns through better preprocedural counseling and explanation may improve adherence to diagnostic workups.”
The largest difference between patients’ and clinicians’ beliefs involved the use of angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs), medications commonly used to reduce protein in the urine in Fabry patients with kidney disease.
The findings support the need for enhanced patient education programs that specifically address the rationale for adjunctive therapies, and for clinician training that emphasizes patient-centered care, including attention to procedural anxiety and quality of life concerns.
Nearly all clinicians (92.3%) believed these medications protect the kidneys in Fabry disease, and all said they would prescribe them alongside ERT for patients with high protein levels in the urine (proteinuria). By contrast, just 26.1% of patients said they would take them without clear evidence of kidney protection in Fabry disease.
“The high refusal rate suggests that simply prescribing ACEi/ARB without providing disease-specific education and evidence may be insufficient,” the researchers wrote.
The survey also found differences in treatment priorities. Although both patients and clinicians ranked slowing damage to the kidneys, heart, and brain among the most important treatment goals, clinicians consistently assigned higher importance to all 18 treatment outcomes assessed. Significant differences were observed for preventing constipation, slowing heart and brain decline, and improving survival.
Not all findings pointed to disagreement, however. Both groups strongly endorsed informing at-risk family members, conducting family screening, and planning for pregnancy as important aspects of Fabry disease care, reflecting a shared understanding of the disease’s inherited nature.
“The findings support the need for enhanced patient education programs that specifically address the rationale for adjunctive therapies, and for clinician training that emphasizes patient-centered care, including attention to procedural anxiety and quality of life concerns,” the researchers concluded. “Future follow-up research is warranted to evaluate the clinical impact and effectiveness of these educational interventions after their implementation.”
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