Medical societies in the United States have issued an alert following reports of severe and unexpected complications, including severe neurological damage and deaths, in otherwise healthy adult and pediatric patients of Venezuelan descent undergoing routine anesthesia.
All Patients Had Venezuelan Ancestry
A common pattern has emerged in the reported cases: all patients had Venezuelan ancestry through their maternal line, and several had family members who had also experienced complications following anesthesia. In nearly all reported cases, sevoflurano, a commonly used volatile anesthetic, was utilized. However, detailed information regarding dosage, concentrations, and duration of exposure is currently unavailable.
Genetic testing of some affected individuals identified multiple mitochondrial mutations, particularly a specific mutation in the ND4 gene, impacting the function of the mitochondrial respiratory chain’s Complex I. Experts explain that Complex I is known to be affected by volatile anesthetics and propofol, and reduced activity of Complex I has been linked to increased sensitivity to these anesthetics in both animals and humans. Currently, there is no readily available test to detect the ND4 mutation.
Recommendations for Anesthesiologists
The Society of Pediatric Anesthesia and the American Society of Anesthesiologists recommend that anesthesiologists inquire about potential Venezuelan maternal ancestry in their patients, while acknowledging that a negative family history does not eliminate risk. They also emphasize the importance of approaching these questions with sensitivity and providing clear information to patients and their families.
Genetic testing, including sequencing of mitochondrial DNA, can confirm the presence of the ND4 mutation, provided the laboratory is informed of the specific variant. The societies advise consultation with genetics specialists and obtaining informed consent before any analysis. Currently, no anesthetic has been identified as definitively safer for these patients. Recommendations include considering avoiding volatile anesthetics, exploring regional anesthesia techniques when feasible, and increasing monitoring during and after procedures.
What Happens Next
Given the limited data, further research is crucial to understand the connection between Venezuelan maternal ancestry, the ND4 mutation, and adverse anesthetic reactions. It is possible that more widespread genetic screening will be considered, and clinical guidelines may evolve as more information becomes available. The medical community may also explore alternative anesthetic approaches for patients identified as potentially at risk. However, without further investigation, it remains difficult to predict the long-term impact of this alert on anesthetic practices.
Frequently Asked Questions
What is mitochondrial DNA?
The SPA and ASA explain that the ND4 mutation is transmitted through the maternal line because it is part of mitochondrial DNA.
What is the role of Complex I?
Inhibition of Complex I can reduce cellular energy production and significantly affect the central nervous system, potentially explaining the observed outcomes.
Is there a known safe anesthetic for these patients?
No, the societies advise that no anesthetic has been identified as definitively safer for these patients at this time.
As this situation unfolds, what role should patient advocacy play in ensuring thorough investigation and transparent communication of findings?
