Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting

Orphanet Journal of Rare Diseases

Research

Deborah Schofield¹  Rupendra Shrestha¹  Sameen Haque²  Karen Crawley³  Carolyn M. Sue⁴ 

[1] Centre for Economic Impacts of Genomic Medicine (GenIMPACT), Macquarie Business School, Macquarie University, Eastern Rd, 2109, Macquarie Park, NSW, Australia;Nepean Hospital, Derby Street, 2747, Kingswood, NSW, Australia;The Kolling Institute, Royal North Shore Hospital, Reserve Road, 2065, St Leonards, NSW, Australia;The Kolling Institute, Royal North Shore Hospital, Reserve Road, 2065, St Leonards, NSW, Australia;The Kolling Institute, Royal North Shore Hospital, Reserve Road, 2065, St Leonards, NSW, Australia;Neuroscience Research Australia, University of New South Wales, Sydney, Australia;

关键词: Mitochondrial diseases;    Mitochondrial disorders;    Health care costs;    Health services;    Health resources;    Outpatients;   

DOI  :  10.1186/s13023-023-02746-x

 received in 2023-01-30, accepted in 2023-05-18,  发布年份 2023

来源: Springer

【 摘 要 】

Background and objectivesMitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinical drivers of these costs are limited including for the out-patient setting where the majority of the clinical care for mitochondrial disease patients occurs. We performed a cross-sectional retrospective study of out-patient healthcare resource utilization and costs for patients with a confirmed diagnosis of mitochondrial disease.MethodsWe recruited participants from the Mitochondrial Disease Clinic in Sydney and stratified them into three groups: those with mitochondrial DNA (mtDNA) mutations (Group 1), those with nuclear DNA (nDNA) mutations and the predominant phenotype of chronic progressive external ophthalmoplegia (CPEO) or optic atrophy (Group 2) and those without a confirmed genetic diagnosis but clinical criteria and muscle biopsy findings supportive of a diagnosis of mitochondrial disease (Group 3). Data was collected through retrospective chart review and out-patient costs were calculated using the Medicare Benefits Schedule.ResultsWe analyzed the data from 91 participants and found that Group 1 had the greatest average out-patient costs per person per annum ($838.02; SD 809.72). Neurological investigations were the largest driver of outpatient healthcare costs in all groups (average costs per person per annum:—Group 1: $364.11; SD 340.93, Group 2: $247.83; SD 113.86 and Group 3: $239.57; SD 145.69) consistent with the high frequency (94.5%) of neurological symptoms. Gastroenterological and cardiac-related out-patient costs were also major contributors to out-patient healthcare resource utilization in Groups 1 and 3. In Group 2, ophthalmology was the second-most resource intensive specialty ($136.85; SD 173.35). The Group 3 had the greatest average healthcare resource utilization per person over the entire duration of out-patient clinic care ($5815.86; SD 3520.40) most likely due to the lack of a molecular diagnosis and a less customized management approach.ConclusionThe drivers of healthcare resource utilization are dependent on the phenotype–genotype characteristics. Neurological, cardiac, and gastroenterological costs were the top three drivers in the out-patient clinics unless the patient had nDNA mutations with predominant phenotype of CPEO and/or optic atrophy wherein ophthalmological-related costs were the second most resource intensive driver.

【 授权许可】

CC BY   
© Crown 2023

【 图 表 】

Fig. 5

41116_2023_36_Article_IEq116.gif

41116_2023_36_Article_IEq818.gif

41116_2023_36_Article_IEq817.gif

41116_2023_36_Article_IEq786.gif