Posts by: Alejandra Viviescas, PhD

How — and how often — patients with mitochondrial diseases make use of healthcare services represents a greater burden than that of the general population, a retrospective study shows. Moreover, the healthcare costs for patients with mitochondrial disease are comparable to those of neurodegenerative diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS). The study, "A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015," was published in the Orphanet Journal of Rare Diseases. Mitochondrial diseases arise from failures in the mitochondria, the cell components that specialize in energy production. Impaired cellular energy production affects different organs. The systems more commonly affected are those that require higher amounts of energy, like the nervous, cardiovascular, and gastrointestinal systems. Mitochondrial diseases are challenging to diagnose because patients often have comorbidities that are common in the general population such as diabetes, heart disease, and neurodegenerative conditions. Currently, there are no specific treatments approved by the U.S. Food and Drug Administration (FDA) for these diseases, whose symptoms progress rapidly affecting various organs, so patients need constant care. That makes the management complex and costly. However, no studies have looked into healthcare utilization — a term for collectively describing how available services are used, how often they are used, and how much they cost — by patients with mitochondrial diseases To address this issue, researchers performed a retrospective study to explore healthcare utilization by patients diagnosed with mitochondrial diseases in the U.S. The data were obtained from the Truven Health Analytics MarketScan and Milliman’s Consolidated Health Cost Guidelines Sources databases, corresponding to commercially insured individuals from 2008 to 2015. The investigators considered patients with mitochondrial disease who had been diagnosed for at least six months. They found 3,790 (46.3%) pediatric patients, ages newborn to 15; and 4,390 (53.7%) adult patients, ages 16 and older. Most patients were female (53.2%). Patients' data were compared to those of the general population, corresponding to all the insured individuals (mean age 26.1). The cost of each pediatric patient per month was $4,829, compared to $202 for the general population. For adult patients, the costs were $3,100 and $486 respectively. "Total healthcare cost for pediatric [mitochondrial disease] was greater than that of [adult mitochondrial disease]. This finding may be due to the greater severity of disease in pediatric patients as compared to adults," the authors wrote. Pediatric patients often had neurological disorders like seizures and autism, imbalances of the immune system, and heart failure. Adult patients often had diabetes and respiratory, neurological, and cardiac disorders. That means patients with mitochondrial diseases had to see more specialists, perform more in-hospital treatments and surgeries, and take more prescription medications, which led to higher healthcare costs. "The scarcity of metabolic specialists highlights the need for both the primary care physician and specialists to recognize common clinical presentations of [mitochondrial disease] and evaluate or refer patients with suspicious symptoms for further specific diagnosis," researchers noted. The healthcare utilization of adult patients with mitochondrial diseases was similar to that of patients with neurodegenerative diseases like multiple sclerosis ($3,518 per patient, per month) and ALS ($3,460 per patient, per month). "We have demonstrated that MD imposes a cost burden that is comparable to the more widely recognized neuromuscular disorders, MS and ALS, making it important for health plans to ensure that patients with MD receive the most appropriate care across multiple health disciplines," the authors concluded.