Causes of death in adults with mitochondrial disease

Marlieke Barends, Lotte Verschuren, Eva Morava-Kozicz, Victoria Nesbitt, Doug Turnbull, Robert McFarland

Research output: Chapter in Book/Report/Conference proceedingChapter

10 Citations (Scopus)

Abstract

Introduction: 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. Aims: 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.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages103-113
Number of pages11
DOIs
StatePublished - Jan 1 2016
Externally publishedYes

Publication series

NameJIMD Reports
Volume26
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Fingerprint

Mitochondrial Diseases
Cause of Death
Patient Care
Rare Diseases
Life Expectancy
Age of Onset
Respiratory Insufficiency
Disease Progression
Molecular Biology
Seizures
Heart Failure
Stroke

Keywords

  • Adult patient cohort
  • Audit
  • Causes of death
  • Life expectancy
  • Mitochondrial disease

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Barends, M., Verschuren, L., Morava-Kozicz, E., Nesbitt, V., Turnbull, D., & McFarland, R. (2016). Causes of death in adults with mitochondrial disease. In JIMD Reports (pp. 103-113). (JIMD Reports; Vol. 26). Springer. https://doi.org/10.1007/8904_2015_449

Causes of death in adults with mitochondrial disease. / Barends, Marlieke; Verschuren, Lotte; Morava-Kozicz, Eva; Nesbitt, Victoria; Turnbull, Doug; McFarland, Robert.

JIMD Reports. Springer, 2016. p. 103-113 (JIMD Reports; Vol. 26).

Research output: Chapter in Book/Report/Conference proceedingChapter

Barends, M, Verschuren, L, Morava-Kozicz, E, Nesbitt, V, Turnbull, D & McFarland, R 2016, Causes of death in adults with mitochondrial disease. in JIMD Reports. JIMD Reports, vol. 26, Springer, pp. 103-113. https://doi.org/10.1007/8904_2015_449
Barends M, Verschuren L, Morava-Kozicz E, Nesbitt V, Turnbull D, McFarland R. Causes of death in adults with mitochondrial disease. In JIMD Reports. Springer. 2016. p. 103-113. (JIMD Reports). https://doi.org/10.1007/8904_2015_449
Barends, Marlieke ; Verschuren, Lotte ; Morava-Kozicz, Eva ; Nesbitt, Victoria ; Turnbull, Doug ; McFarland, Robert. / Causes of death in adults with mitochondrial disease. JIMD Reports. Springer, 2016. pp. 103-113 (JIMD Reports).
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