Rare Genetic Disorder Substantially Increases Healthcare Costs for Kidney Disease patients
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A new study reveals that patients with both primary hyperoxaluria (PH) and chronic kidney disease (CKD) face substantially higher healthcare costs as their kidney disease progresses, highlighting the urgent need for earlier diagnosis and intervention.
Patients grappling with this rare genetic condition experience a significantly elevated disease burden and increased costs of care, especially as CKD advances. Published in BMC Nephrology, the retrospective analysis underscores a critical need for improved diagnosis and management of PH to mitigate the escalating economic and clinical impact on patients.
Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the overproduction of oxalate, leading to its accumulation in the kidneys and other organs. This buildup results in chronic kidney stone formation and calcium oxalate deposits within kidney tissue, ultimately contributing to the growth and progression of chronic kidney disease (CKD), and perhaps leading to kidney failure.
“To our knowledge, this study is the first to describe the excess disease and healthcare burdens observed in patients who had PH who also experience CKD,” stated a lead investigator.”These data indicate that patients who have PH with advanced CKD have 1.5-times higher average all-cause semi-annual healthcare costs when compared with patients who have PH with early CKD.”
Study Methodology and Key Findings
The research team conducted a retrospective review of administrative claims data from the Merative MarketScan Commercial Claims and Encounters databases and the Centers for Medicare and Medicaid Services Medicare Fee-for-Service Limited Data Set. The study focused on three distinct patient groups: individuals diagnosed with PH, those with both PH and CKD, and a control group with CKD alone. Data was collected between January 2017 and December 2021.
The analysis included 326 patients with PH, representing an estimated population of around 4,500 individuals in the United States in 2021. Notably, approximately 37% of those with PH also had CKD, translating to a projected 1,600 patients facing the combined challenges of both conditions. Among those with PH and CKD:
- 65% had early-stage CKD (stages 1-3)
- 33% had advanced CKD (stages 4-5)
- 2% had an unknown CKD stage
The study revealed that patients with PH and CKD experienced a greater incidence of kidney stones (P < .01) and required more frequent pharmacotherapy and medical treatments compared to those with CKD alone.
The Economic Impact of Combined PH and CKD
The financial implications of this dual diagnosis are substantial. Median semi-annual healthcare costs were significantly higher for patients with PH and CKD, regardless of CKD stage.Specifically:
- Patients with PH and advanced CKD incurred costs of $54,154, compared to $35,016 for those with advanced CKD alone.
- Patients with PH and early CKD faced costs of $9,784, versus $5,572 for those with early CKD alone.
These findings underscore the important economic burden associated with managing PH in the context of progressive kidney disease.
Addressing Underdiagnosis and Improving Patient Outcomes
Investigators concluded that primary hyperoxaluria is highly likely underdiagnosed and misdiagnosed, leading to delayed treatment and poorer outcomes. “We found that patients who had PH with CKD experienced larger clinical and economic burdens when compared with patients who had PH alone,” the research team noted.Early diagnosis of PH is crucial to prevent CKD progression and mitigate escalating healthcare costs.
National Institution for Rare Disorders: Primary Hyperoxaluria provides further data on this rare condition.
BMC Nephrology study: Real-world burden of primary hyperoxaluria with chronic kidney disease in the united States details the full study findings.
