Mitochondrial Disease

Background

Definition: group of disorders that affect the function of mitochondria (ATP powerhouse of the cell) resulting in a complex multisystem disease of varying severity
- disorders can affect any system with any symptom and any mode of inheritance
- associated with ↑ lactate
Prevalence = 1: 4000, most manifest by 20 y/o
Common procedures:
- muscle biopsies, MRI/CT scans, endo/gastrostomy creations, strabismus sx

Considerations

Potential effects on multiple organ systems:
- CVS: cardiomyopathy, conduction abnormalities
- Resp: central hypoventilation, respiratory muscle weakness
- GU: renal insufficiency
- GI: hepatic insufficiency
- Endo: DM, hypoparathyroidism
- Heme: anemia, thrombocytopenia
Ascertain degree of organ involvement especially cardio-resp:
- PFTs, CXR, ABG, ECG, Echo if available
Ensure relevant multi-disciplinary consultants are involved
↑ Risk of metabolic encephalopathy
Altered effects of anesthetic medications:
- Propofol: avoid when possible (especially prolonged infusions) due to ↑ risk of PRIS
- Succinylcholine: avoid due to ↑ hyperkalemia risk
- NDMR: unpredictable response

Goals

Overarching goal: Minimize metabolic stress of surgery
- consider trending lactate as marker of metabolic stress
Avoid:
- Hypotension, hypoxia, hypoglycemia, hypothermia
- Lactate containing solutions (Ringer's)
- Propofol, succinylcholine
- Prolong periods of fasting
Good post-operative analgesia plan (regional, multi-modal analgesia when possible)

References

Desai, V. (2021). Mitochondrial disease and anaesthesia : WFSA - resources. Mitochondrial Disease and Anaesthesia. Retrieved November 20, 2021, from https://resources.wfsahq.org/atotw/mitochondrial-disease-and-anaesthesia/.