Gastroenterological symptoms drive mitochondrial-related hospitalisations

GI tract

By Siobhan Calafiore

26 Jun 2024

Gastroenterological symptoms such as intestinal pseudo-obstruction are clinical drivers of prolonged and complex hospitalisation for mitochondrial diseases, an Australian study suggests.

Sydney researchers recruited 99 patients with clinically or genetically confirmed mitochondrial diseases from the specialised Mitochondrial Disease Clinic at Royal North Shore Hospital between September 2018 and December 2021.

Of the cohort (mean age at diagnosis 45, 65% female), 52 had mtDNA single-nucleotide variants or deletions, 18 had nDNA variants and 29 did not have a genetic diagnosis but fulfilled diagnostic criteria with supportive muscle biopsy findings.

The research team conducted a retrospective chart review of hospital medical records and discharge summaries for ED presentations and hospital admissions between January 2013 until December 2022.

During this time, almost half (52%) of participants had at least one mitochondrial disease-associated admission, 13% presented to ED but did not require hospital admission and 35% never required ED or hospital admission.

Findings showed that hospital duration ranged from 0 to 116 days (mean 10.9) and admissions ranged from 0 to 21 (mean 1.6) per participant over the 10-year period.

Of the 144 admissions in total, 31% had neurological complaints such as exacerbation or progression of myopathy, stroke-like episodes, intractable migraines, seizures and encephalopathy. Other complaints included cardiac (15%), gastroenterological (14%), and for endocrine issues or complications (7%).

Of the remaining presentations, 7% related to pain associated with mitochondrial disease and 26% of admissions were due to ‘other’ causes, including haematological and renal complications, as well as mental health issues and psychosis in the context of mitochondrial disease, the researchers added.

Five patients died during the study period, including four patients in ICU.

Main presentations

Neurological symptoms, gastroenterological symptoms and symptoms categorised as ‘other’ were the main presentations driving the total number of days admitted to hospital, according to multivariate linear regression analysis.

For each additional neurological presentation, the number of admitted days increased on average by 9.61. For each additional gastroenterological presentation, the number of admitted days increased on average by 8.37.

The study also identified very strong evidence supporting associations between number of admissions and neurological, gastroenterological, cardiac and endocrinological presentations, pain associated with mitochondrial disease and complaints categorised as ‘other’, after adjusting for age at diagnosis and gender.

For each additional presenting symptom, the number of admissions increased on average by 0.87 for neurological, 1.14 for gastroenterological, 0.87 for cardiac, 0.88 for endocrinological, 1.03 for presentations associated with pain and 0.98 for presentations categorised as ‘other’.

Writing in BMJ Neurology Open [link here], the researchers said their results were consistent with previous research, underscoring the prominent role of neurological manifestations in the clinical profile of patients with mitochondrial diseases.

“Patients with certain neurological presentations, such as stroke-like episodes and status epilepticus, and gastroenterological presentations, like intestinal pseudo-obstruction, can be quite unwell with greater risk of acute deterioration leading to longer and more complex hospitalisation,” they wrote.

“A higher number of admissions were attributed to neurological complaints, which demonstrates the vital role neurologists play in the hospital care of patients with mitochondrial diseases and heightens their importance in chronic care plans to pre-empt deterioration.

“Similarly, the non-neurological presentations of certain phenotypes in patients with nDNA variants allow for early recognition and opportunities to address and minimise these presentations in a timely fashion.”

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