Dialysis emerges as major hurdle in late-stage PH1
Primary hyperoxaluria type 1 (PH1) significantly impacts the lives of both patients and caregivers, according to a study that highlights the extensive challenges associated with PH1, including a prolonged diagnostic journey, diverse and often debilitating symptoms, and the substantial emotional, physical, and practical burdens faced by individuals living with the condition.
Late-stage disease, characterized by the necessity of dialysis, was identified as a particularly challenging phase, with additional difficulties exacerbated by the COVID-19 pandemic.
The study, conducted through in-depth, semi-structured telephone interviews, involved 16 patients and 12 caregivers. Participants, aged 12 years and above for patients and caregivers of children aged 6-17 years, all had genetically confirmed PH1.
The findings found a prolonged diagnostic journey for those affected, primarily due to low awareness surrounding the condition. Upon diagnosis, symptoms of PH1 were commonly kidney stone-related, but could also extend beyond the renal system. In adolescents, PH1 triggered worry and social limitations, while adults experienced impaired physical function. Caregivers reported a diverse range of impacts.
In late-stage disease, dialysis emerged as the most burdensome aspect of living with PH1, attributed to time constraints and limitations associated with catheter use. The challenges were further compounded by the COVID-19 pandemic.
Patients and caregivers expressed a desire for improved management strategies, including reductions in oxalate burden, kidney stone occurrence, urination frequency, and oxalate-related skin ulcers.
Danese D, Goss D, Romano C, Gupta C. Qualitative assessment of the patient experience of primary hyperoxaluria type 1: an observational study. BMC Nephrol. 2023;24(1):319. doi: 10.1186/s12882-023-03365-1. PMID: 37884879; PMCID: PMC10604408.