Browsing by Subject "Familial hypophosphatemia"

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    Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing
    (American Society of Neuroradiology, 1995) Caldemeyer, Karen S.; Smith, Richard R.; Edwards-Brown, Mary K.; Radiology and Imaging Sciences, School of Medicine
    In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy. The case also showed metastatic calcification in the walls of both globes.
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    Real-World Clinical and Healthcare Resource Burden Among Burosumab-Naïve Patients With Familial Hypophosphatemia
    (Oxford University Press, 2024-10-24) Imel, Erik A.; Li, Zhiyi; Heerssen, Heather M.; Princic, Nicole; Schwartz, Hana; Zhao, Yang; Dahir, Kathryn M.; Medicine, School of Medicine
    Objective: To examine the real-world clinical and healthcare resource burden of familial hypophosphatemia (FH). Methods: In a retrospective, observational cohort study using MarketScan claims data from 2017 to 2021, clinical characteristics and healthcare resource utilization (HCRU) and costs were compared between burosumab-naïve pediatric and adult patients with ≥ 1 FH diagnosis code and matched controls without FH. Patient characteristics were evaluated at baseline, and disease characteristics, HCRU, and costs were evaluated over a 12-month follow-up period. Outcomes were analyzed descriptively. Costs were additionally analyzed using multivariate regression models. Results: Overall, 570 patients with FH and 1710 non-FH matched controls were included. Approximately 10% of study participants were aged < 18 years. Patients with FH had 7.8-fold higher mean baseline comorbidity (Charlson Comorbidity Index). The prevalence of morbidities over the 12-month follow-up period was higher in patients with FH than controls, including renal disease (33% vs 3%), arthralgia (25% vs 10%), osteoarthritis (17% vs 6%), and delayed growth/walking difficulty (16% vs 2%; all P < .001). All-cause HCRU was significantly greater for patients with FH than controls over follow-up, including the proportion of patients with at least one inpatient admission (60% vs 4%), outpatient emergency room visit (52% vs 16%), and outpatient pharmacy prescription (96% vs 71%; all P < .001). The mean annual total healthcare cost per patient was also 22.6-fold higher for patients with FH than controls (adjusted cost difference = $129 643; P < .001). Differences were apparent across all age groups. Conclusion: Compared with non-FH matched controls, burosumab-naïve patients with FH experienced multiple morbidities and had substantially higher HCRU and costs.