• Sarah Missen, Callum Wilson, Howard Potter, Andrea L Vincent, Rinki Murphy, Richard Roxburgh, Miriam Rodrigues, Gemma Poke, Stephen P Robertson, David R Thorburn, and Emma Glamuzina.
• Child Health Service, Whangarei Hospital, Te Whatu Ora - Health New Zealand, Te Tai Tokerau, Whangarei, New Zealand.
• Intern Med J. 2024 Mar 1; 54 (3): 388397388-397.

BackgroundThe complexities of mitochondrial disease make epidemiological studies challenging, yet this information is important in understanding the healthcare burden and addressing service and educational needs. Existing studies are limited to quaternary centres or focus on a single genotype or phenotype and estimate disease prevalence at 12.5 per 100 000. New Zealand's (NZ) size and partially integrated national healthcare system make it amenable to a nationwide prevalence study.AimTo estimate the prevalence of molecularly confirmed and suspected mitochondrial disease on 31 December 2015 in NZ.MethodsCases were identified from subspecialists and laboratory databases and through interrogation of the Ministry of Health National Minimum Dataset with a focus on presentations between 2000 and 2015. Patient records were reviewed, and those with a diagnosis of 'mitochondrial disease' who were alive and residing in NZ on the prevalence date were included. These were divided into molecularly confirmed and clinically suspected cases. Official NZ estimated resident population data were used to calculate prevalence.ResultsSeven hundred twenty-three unique national health index numbers were identified. Five hundred five were excluded. The minimum combined prevalence for mitochondrial disease was 4.7 per 100 000 (95% confidence interval (CI): 4.1-5.4). The minimum prevalence for molecularly confirmed and suspected disease was 2.9 (95% CI 2.4-3.4) and 1.8 (95% CI 1.4-2.2) cases per 100 000 respectively.ConclusionsWithin the limitations of this study, comparison to similar prevalence studies performed by specialist referral centres suggests mitochondrial disease is underdiagnosed in NZ. This highlights a need for improved education and referral pathways for mitochondrial disease in NZ.© 2023 The Authors. Internal Medicine Journal published by John Wiley & Sons Australia, Ltd on behalf of Royal Australasian College of Physicians.

11 keywords...

hide…