Lifetime Secondary Healthcare Resource Utilization in Phenylketonuria From Birth to Adulthood in Sweden
Author(s)
Andreas Kindmark, MD1, Erika Frank, PhD2, Paul Okhuoya, MSc3, Eva-Lena Stattin, MD, PhD4, Karly S. Louie, MSc, PhD3.
1Department of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden, 2Uppsala Clinical Research Center, Uppsala University, Uppsala, Sweden, 3BioMarin Europe Ltd., London, United Kingdom, 4Department of Immunology, Genetics and Pathology, Uppsala University Hospital, Uppsala, Sweden.
1Department of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden, 2Uppsala Clinical Research Center, Uppsala University, Uppsala, Sweden, 3BioMarin Europe Ltd., London, United Kingdom, 4Department of Immunology, Genetics and Pathology, Uppsala University Hospital, Uppsala, Sweden.
OBJECTIVES: To describe lifetime secondary healthcare resource utilization (HRU) in individuals diagnosed with phenylketonuria (PKU) from infancy to adulthood in Sweden.
METHODS: A record-linkage observational study was conducted using national registers and included 353 adults with PKU who were residing in Sweden during 2019-2020, and 6595 controls matched 1:20 based on age, sex, and healthcare region. Treatment and management of individuals with PKU occurs mainly in specialist care. Mean secondary care HRU (total medical visits, inpatient visits, outpatient visits, and pharmacy visits) and costs were summarized for 2020 (when all individuals were adults) and compared for PKU vs non-PKU individuals using a Wald test (p<0.05 considered significant). Additionally, mean secondary care HRU for individuals at specified ages was calculated from infancy to adulthood.
RESULTS: In 2020, secondary care mean HRU (95% CI) was higher for individuals with PKU compared with that for non-PKU controls: total medical visits (2.3 [2.0, 2.7] vs. 1.2 [1.2, 1.3], p<0.001) inpatient visits (0.2 [0.1, 0.3] vs. 0.1 [0.1, 0.1], p=0.07), outpatient visits (2.2 [1.9, 2.5] vs. 1.1 [1.1, 1.2], p<0.001), and pharmacy visits (8.9 [7.7, 10.2] vs. 4.5 [4.3, 4.7], p<0.001). Mean total secondary care costs were 1.7-fold higher in individuals with PKU compared with non-PKU controls (US$2391 [$1600, $3182] vs. US$1374 [$1202, $1547], p=0.009). Across the lifespan, individuals with PKU consistently showed higher average secondary care HRU at specific ages compared with non-PKU controls, specifically for medical visits, outpatient visits, and pharmacy visits, but not inpatient visits; HRU was lowest during infancy and increased with increasing age.
CONCLUSIONS: The higher secondary care HRU observed in individuals with PKU highlight the significant health economic burden on the healthcare system throughout their lifetime compared with general population controls.
METHODS: A record-linkage observational study was conducted using national registers and included 353 adults with PKU who were residing in Sweden during 2019-2020, and 6595 controls matched 1:20 based on age, sex, and healthcare region. Treatment and management of individuals with PKU occurs mainly in specialist care. Mean secondary care HRU (total medical visits, inpatient visits, outpatient visits, and pharmacy visits) and costs were summarized for 2020 (when all individuals were adults) and compared for PKU vs non-PKU individuals using a Wald test (p<0.05 considered significant). Additionally, mean secondary care HRU for individuals at specified ages was calculated from infancy to adulthood.
RESULTS: In 2020, secondary care mean HRU (95% CI) was higher for individuals with PKU compared with that for non-PKU controls: total medical visits (2.3 [2.0, 2.7] vs. 1.2 [1.2, 1.3], p<0.001) inpatient visits (0.2 [0.1, 0.3] vs. 0.1 [0.1, 0.1], p=0.07), outpatient visits (2.2 [1.9, 2.5] vs. 1.1 [1.1, 1.2], p<0.001), and pharmacy visits (8.9 [7.7, 10.2] vs. 4.5 [4.3, 4.7], p<0.001). Mean total secondary care costs were 1.7-fold higher in individuals with PKU compared with non-PKU controls (US$2391 [$1600, $3182] vs. US$1374 [$1202, $1547], p=0.009). Across the lifespan, individuals with PKU consistently showed higher average secondary care HRU at specific ages compared with non-PKU controls, specifically for medical visits, outpatient visits, and pharmacy visits, but not inpatient visits; HRU was lowest during infancy and increased with increasing age.
CONCLUSIONS: The higher secondary care HRU observed in individuals with PKU highlight the significant health economic burden on the healthcare system throughout their lifetime compared with general population controls.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE565
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases