Primary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study

Abstract

Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that can result in irreversible damage to the kidneys and, eventually, extrarenal organs. While kidney failure is a known consequence of PH1, few studies to date have characterized clinical consequences of PH1 prior to kidney failure, and data on healthcare resource use outcomes across different stages of disease severity in PH1 are also limited. To help fill this knowledge gap, this study characterized the clinical and healthcare resource use (HRU) burden in patients with PH1 with varying stages of kidney disease.Methods: Nephrologists in the United States, Canada, United Kingdom, France, Germany, and Italy abstracted chart data from patients with PH1 under their care via an online questionnaire. Eligible patients had confirmed PH1 and ≥2 office visits from 2016 to 2019.Results: A total of 120 patients were analyzed (median age at diagnosis, 17.4 years old, median age at index 19.5 years old, median eGFR at index 45 ml/min/1.73 m2; median follow-up 1.7 years). During follow-up, the most common PH1 manifestations were kidney stones and urinary tract infections (UTIs, both 56.8%), and the most common symptoms were fatigue/weakness (71.7%) and pain (64.6%). With regard to HRU during follow-up, 37.4% required lithotripsy, 31.3% required ureteroscopy, and 9.6% required nephrolithotomy. PH1-related hospitalizations and emergency/urgent care visits were noted for 84.0 and 81.6% of patients, respectively.Conclusions: The current study demonstrated that patients with PH1 across various stages of kidney disease exhibited a substantial clinical burden, including kidney stones, UTIs, fatigue/weakness, and pain, and required frequent HRU, including kidney stone procedures, hospitalizations, and emergency visits. These findings highlight the significant morbidity and HRU burden in patients with PH1.

Healthcare utilization, quality of life, and work productivity associated with primary hyperoxaluria: a cross-sectional web-based US survey

“…Despite patients actively managing their PH, they continue to experience negative outcomes. These findings are in full agreement with results of an international retrospective chart review of patients with PH1 under nephrologists' care, which showed a substantial clinical burden across the spectrum of kidney impairment, including kidney stones, urinary tract infections, fatigue/weakness, and pain, for which patients require multiple urological kidney stone procedures, hospitalizations, and emergency visits [16]. Up to 1 week of school was missed every month due to PH, putting those affected further behind their peers both academically and socially.…”

“…Currently available information on the burden of PH for both patients and caregivers largely focuses on disease manifestations and healthcare resource utilization (HRU) in PH1 [ 1 , 14 , 16 ], leaving knowledge gaps regarding the effect of PH on health-related quality of life (HRQOL) and work productivity and activity impairment (WPAI).…”

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study

“…In another study of 104 patients with PH1, 34.6% of patients had systemic symptoms. Extrarenal symptoms included arrhythmia, bone pain, peripheral neuropathy, cardiomyopathy, visual problems, and respiratory distress 27 . In our study, extrarenal manifestations involving at least one system were observed in 23 (43.3%) of patients.…”

Distinct hepatocyte identities in liver homeostasis and regeneration

“…For example, mutations in a single enzyme ( AGXT ), predominantly expressed in periportal hepatocytes, results in a life-threatening condition, primary hyperoxaluria type 1. 26 , 156 How loss of zonal hepatocyte identity and function contribute to the many detrimental symptoms of chronic liver disease ( e.g . visceral bleeding, hepatic encephalopathy, cachexia and ascites) requires further assessment.…”