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

Abstract

BackgroundAutosomal 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.MethodsIn-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.ResultsEighty-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.ConclusionsEarly-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.

Mitochondrial disease patient motivations and barriers to participate in clinical trials

“…Learning the patient perspective of their most prevalent and disabling symptom(s) that they themselves prioritize for treatment is essential in PMDs that have such high phenotypic heterogeneity. This result is unique to PMD due to the multi-systemic nature of this disease, in contrast to studies in other rare inherited disorders [ 32 , 33 ]. Awareness of discrepancies in physician-patient or physician-parent perceptions of disease burden need to be acknowledged and considered in trial design [ 34 ].…”

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

“…As abdominal and back pain are very common symptoms among children and adolescents in general, further investigations and treatment need to be guided by acuity, intensity and associated findings 137 (Box 9). Even in the early stages of ADPKD, episodes of nonspecific abdominal pain are frequently reported by adults and tend to be underestimated by physicians 138 . However, patients might have a biased perception of pain, especially if investigations for abdominal pain led to their incidental diagnosis of ADPKD.…”

The fertility willingness and acceptability of preimplantation genetic testing in Chinese patients with autosomal dominant polycystic kidney disease

“…There are currently few effective drugs to treat the disease, and the treatment in the early stages of ADPKD mainly includes blood pressure control and regular follow-up [5,9]. However, research on the physiological and psychological burden of patients in the early stages of ADPKD is very limited, and the conclusions are conflicting [10]. Obviously, in the early stages of the disease, as a social individual, it is a critical period for ADPKD patients to set up families and have children.…”

“…Some studies have shown that even in the early stages, polycystic kidney disease (PKD) imposes a physical and psychological burden on patients, resulting in a decline in their quality of life. If doctors are not aware of this, patients may feel frustrated [10][11][12]. Patients' fear of the disease and feelings of helplessness, as well as doctors' insufficient health education on ADPKD and its relevant knowledge, may both affect the fertility willingness of ADPKD patients because of their fear of the inheritance of the disease and the complications of pregnancy and even hinder them from forming a family [13][14][15].…”