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Healthcare Costs for Mitochondrial Disease Are Comparable to Those for ALS and MS

David Bai, PharmD
Patients with mitochondrial disease have a significantly higher cost burden compared with the general population, according to the results of a recent retrospective claims analysis.
Patients with mitochondrial disease have a significantly higher cost burden compared with the general population, according to the results of a recent retrospective claims analysis.

Mitochondrial disease is a rare genetic mutation in which the mitochondria, the organelle responsible for producing most of the cellular energy through oxidative phosphorylation, is impaired. The incidence of mitochondrial disease is approximately 1 in every 5000 adults. Some of the challenges involved in managing mitochondrial disease are the difficulty of identifying it; mitochondrial disease shares many of the common symptoms and features as other chronic conditions such as diabetes, heart disease, or gastrointestinal disorders, and it also lacks specific biomarkers. Furthermore, there are no pharmacologic therapies approved by the FDA to specifically treat mitochondrial disease.

Currently, the gold standard for diagnosis and treatment are genetic testing and supportive care. With the lack of treatments available for patients with mitochondrial disease, there is a need for multidisciplinary approaches to enhance the quality of care. To analyze costs and how many resources are required, the paper’s authors designed a retrospective study to report resource utilization and costs of mitochondrial disease and how they differ from the costs of the general population and the costs of patients with other neuromuscular disorders, including multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS).

The mean total per member per month (PMPM) costs were significantly higher in the mitochondrial disease group compared with the general population ($3958 versus $427; P < .001). Individual claims were also significantly higher in the mitochondrial disease group ($455 versus $206). The 3 highest PMPM claims were inpatient hospitalizations ($769), surgery ($746), and prescription drugs ($582).

All healthcare costs were higher in patients with mitochondrial disease except for colonoscopy. Healthcare utilization was also greater for patients with mitochondrial disease compared with the general population. Both groups had prescription drugs and physician visits as the resources most used.

The top 3 physician specialties that adult patients used were internal medicine (15%), general practice (10%), and family practice (9%), with neurology having the greatest increase in the physician setting. The top 3 physician specialties for children were pediatric (24%), general practice (9%), and neurology (6%), with physical therapy having the greatest increase in resource utilization.

Compared with patients with ALS and MS, those with mitochondrial disease had comparable PNPM costs ($3460 for ALS, $3518 for MS). A greater percentage of patients with mitochondrial disease (54.9%) visited the emergency room compared to patients with MS (30.7%) and ALS (34.1%). Patients with mitochondrial disease also had more inpatient visits (27.8%) than did patients with MS (9.1%).

Patients with mitochondrial disease carry a higher cost burden and healthcare utilization than the general population, concluded the authors, and further resources are required to investigate additional treatments to reduce costs and provide more appropriate care.

Reference

Cohen B, Balcells C, Hotchkiss B, Aggarwal K, Karaa A. A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015. Orphanet J Rare Dis. 2018;13:210. doi: 10.1186/s13023-018-0949-5.

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