New Method Offers Less Invasive Detection of Susceptibility to Rare Anesthesia Reaction

Definitive preoperative testing today relies on an open muscle biopsy, which limits access and creates significant recovery needs. These barriers complicate risk assessment for patients with a family history of the condition. To help address this challenge, researchers now report a less invasive diagnostic approach designed to identify susceptibility before surgery.

Developed at The University of Queensland (Brisbane, Australia), the Calcium Wave Frequency Assay is a diagnostic test intended to detect susceptibility to malignant hyperthermia from a very small muscle sample. The approach uses approximately 1,000-fold less tissue than the current standard, analyzing a single muscle fiber rather than a large open-biopsy specimen. The investigators indicate the method is designed to reduce procedure burden while maintaining the goal of accurate risk stratification before exposure to triggering anesthetics.

Current practice for accurate assessment requires an open biopsy that leaves a 10-centimeter incision on the thigh. The procedure is invasive, costly, and time-consuming, and it cannot be performed in children. Adults may also avoid testing because of anticipated pain, scarring, and days of recovery, limiting identification of at-risk individuals.

Although a blood test for known genetic variants is available, its clinical utility is constrained by a relatively high risk of false-negative results, given the wide range of mutations that can confer susceptibility. During an acute episode, patients may develop severe muscle rigidity, life-threatening hyperthermia, tachycardia, and metabolic acidosis. While a muscle relaxant can be administered to manage the reaction, survivors may still sustain permanent neurological injury. Together, these limitations highlight the need for more reliable and earlier screening approaches.

The research is published in Anaesthesiology and was conducted in collaboration with anesthetists at The Royal Melbourne Hospital and The Children's Hospital at Westmead. The team reports that the next step is full clinical validation of the new assay.

“While MH is a rare condition, anaesthetists need to know if a patient is susceptible so they can take extra precautions, otherwise the person could die during an operation. A muscle relaxant drug can be administered to someone having an MH reaction, but even if the person survives, they can still have permanent neurological damage. It is vital people know this information,” said Professor Bradley Launikonis, School of Biomedical Sciences, The University of Queensland.

“We hope the new test can eventually be done with a minimally invasive needle biopsy and that it could ultimately have implications for other muscle conditions such as Muscular dystrophy,” added Professor Launikonis.

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