Causes of Death in Adults with Mitochondrial Disease.
BACKGROUND
Mitochondrial diseases are a clinically, biochemically and genetically heterogeneous group of disorders with a variable age of onset and rate of disease progression. It might therefore be expected that this variation be reflected in the age and cause of death. However, to date, little has been reported regarding the 'end-of-life' period and causes of death in mitochondrial disease patients. For some specific syndromes, the associated clinical problems might predict the cause of death, but for many patients, it remains difficult to provide an accurate prognosis.


OBJECTIVE
To describe a retrospective cohort of adult mitochondrial disease patients who had attended the NHS Highly Specialised Services for Rare Mitochondrial Diseases in Newcastle upon Tyne (UK), evaluate life expectancy and causes of death and assess the consequences for daily patient care.


METHODS
All deceased adult patients cared for at this centre over a period of 10 years were included in the study. Patient history, data on laboratory findings, biochemical investigations and genetic studies were analysed retrospectively.


RESULTS
A total of 30 adult mitochondrial patients died within the time period of the study. The main mitochondrial disease-related causes of death in this patient cohort were respiratory failure, cardiac failure and acute cerebral incidents such as seizures and strokes. In almost half of the patients, the cause of death remained unknown. Based on our study, we present recommendations regarding the care of patients with mitochondrial disease.
Nijmegen Centre for Mitochondrial Disorders and Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.|Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Marlieke
M
Barends
Nijmegen Centre for Mitochondrial Disorders and Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.|Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Lotte
L
Verschuren
Hayward Genetics Center SL#31, Tulane University Medical School, New Orleans, LA, USA.
Eva
E
Morava
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Victoria
V
Nesbitt
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Doug
D
Turnbull
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. Robert.mcfarland@ncl.ac.uk.
Robert
R
McFarland
Adult patient cohort; Audit; Causes of death; Life expectancy; Mitochondrial disease