Understanding the physical and emotional impact of early-stage ADPKD: experiences and perspectives of patients and physicians

Abstract

Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder; however, at the time this research was conducted, no disease-modifying treatment was currently available. Medical texts often describe early-stage disease (Stages 1 and 2) as asymptomatic, but there is evidence from patients of considerable physical and emotional effects.

Methods

In-depth interviews were conducted with 80 ADPKD patients, 72 nephrologists and 85 primary care physicians (PCPs) from nine European countries to explore the experience and impact of early-stage ADPKD. Interviews were transcribed, translated and analysed centrally using thematic analysis. An additional 600 physicians completed standardised online questionnaires to investigate perceptions of symptom severity and management of early-stage ADPKD.

Results

Eighty-eight per cent of patients with early-stage disease reported physical symptoms including pain, fatigue, breathlessness, weakness and a general malaise. However, 24% of nephrologists and 16% of PCPs perceived that the patients with early-stage disease did not experience any physical symptoms at all. There was a greater awareness of the emotional impact of disease, but this was still underestimated when compared with patient-reported experiences, which highlighted widespread feelings of loss, uncertainty and fear.

Patients and physicians experienced frustration due to the lack of treatment options, especially in the long latent period. For many patients, the inability to affect their disease course whilst living with a diagnosis resulted in feelings of hopelessness, helplessness and depression. Physicians identified a need for improved cooperation between health-care professionals, and increased psychological support for patients.

Conclusions

Early-stage ADPKD can have a significant physical and emotional impact on patients. Whilst some physicians have an awareness of patient experience during early-stage disease, most underestimate the impact of ADPKD. Both patients and physicians are negatively affected by their inability to alter disease progression.