Background: The prevalence of mitochondrial diseases is increasingly being recognised. However, there is little data about the outcome of patients with a mitochondrial disease requiring critical care during the course of their illness. There are no guidelines indicating the best management during an acute deterioration or whether active treatment should be continued.
Methods: We reviewed 170 patients with mitochondrial diseases from a specialist clinic, over a 10-year period, and identified 10 patients that had been admitted to an intensive care, high dependency or coronary care unit. We reviewed their clinical presentations, investigations, treatment trials, and outcomes.
Results: Eight of the 10 patients requiring critical care management presented with neurological symptoms such as seizures, stroke-like episodes or an encephalopathy. One had sepsis, and another had cardiac failure. Their underlying diagnoses included: MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes) syndrome in 3 males, 3 females, aged 44-69; Kearns-Sayre Syndrome in 1 male, aged 26; POLG (polymerase G mutation) in 2 females, aged 21 and 33; and MNGIE (mitochondrial neuro-gastrointestinal encephalopathy) syndrome in 1 female, aged 24. 6 patients survived – 1 requiring high-level care, and 4 died.
Conclusions: 5-6% of patients with mitochondrial disease required critical care admissions over the 10-year period. Of the 10 patients requiring critical care, 6 survived. Their cases illustrate the variability of clinical presentations that require critical care. It is vital that factors indicating poor prognosis or potential recovery are identified. Larger studies to determine the risk factors that identify these prognostic factors are warranted.