A groundbreaking method to test for potentially life-threatening reactions to anaesthetics has been developed by researchers at the University of Queensland. This new approach promises a less invasive alternative for diagnosing malignant hyperthermia (MH), a genetic condition that can cause severe reactions during surgery.
Malignant hyperthermia, a rare but serious condition, triggers muscle rigidity, dangerously high body temperatures, increased heart rates, and a build-up of acid in the blood when affected individuals are exposed to certain anaesthetics. These symptoms can be fatal if not promptly addressed. Professor Bradley Launikonis from UQ’s School of Biomedical Sciences emphasizes the genetic nature of MH, urging those with a family history of the condition to undergo testing before surgery.
Current Challenges in Diagnosing Malignant Hyperthermia
Presently, the only reliable method to assess susceptibility to MH involves an invasive muscle tissue biopsy. This procedure requires a significant sample from the patient, resulting in a 10cm incision on the thigh, leading to discomfort, scarring, and a lengthy recovery period.
“The process is invasive, expensive and time-consuming and causes significant discomfort and scarring,” Professor Launikonis explained. “The test can’t be done on children and there are some adults who are fearful of large biopsies, or don’t want to be left with a huge scar as well as the potential for several days of recovery.”
In Australia alone, approximately 10 people undergo this invasive procedure each week across three MH Diagnostic Units. Despite the availability of a genetic blood test, the risk of false negatives remains high due to the numerous mutations that can lead to MH susceptibility.
Introducing the Calcium Wave Frequency Assay
The University of Queensland team has developed the Calcium Wave Frequency Assay, a new diagnostic test that requires only a single muscle fiber—about 1,000 times less tissue than the current method. This innovation could significantly reduce the invasiveness of testing and make it more accessible to a broader population, including children.
“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,” Professor Launikonis stated.
The discovery of MH dates back to the 1960s when anaesthetist Dr. Michael Denborough first recognized the condition in Melbourne after multiple family members suffered fatal reactions to general anaesthetic. Since then, the medical community has sought more effective and less invasive testing methods.
Future Implications and Next Steps
While MH remains a rare condition, the potential consequences during surgery are severe, making it crucial for anaesthetists to be aware of a patient’s susceptibility. The availability of a muscle relaxant drug can mitigate the effects of an MH reaction, but the risk of permanent neurological damage persists even if the patient survives.
“It is vital people know this information,” emphasized Professor Launikonis. “Anaesthetists need to know if a patient is susceptible so they can take extra precautions, otherwise the person could die during an operation.”
The next phase for the University of Queensland researchers is to conduct a full clinical validation of the Calcium Wave Frequency Assay. If successful, this test could revolutionize the way MH and potentially other muscle conditions are diagnosed, offering a safer, quicker, and more comfortable alternative for patients worldwide.
As the medical community awaits further developments, this breakthrough represents a significant step forward in the ongoing effort to improve patient safety and outcomes in surgical settings.
