What Is Malignant Hyperthermia?
General anaesthesia is an important part of surgery that prevents patients from feeling pain during an operation. However, some people may be at risk of a condition known as malignant hyperthermia (MH), sometimes described as a severe reaction to anaesthetic drugs.
Malignant hyperthermia can cause:
๐ A rapid rise in body temperature
๐ A fast heart rate
๐ Muscle rigidity
๐ Abnormally increased metabolism
๐ Changes in blood acidity and electrolyte levels
Although the condition is rare, it is a medical emergency that requires immediate treatment.
Why Is Malignant Hyperthermia a Concern?
One of the most important concerns is that malignant hyperthermia is associated with inherited genetic susceptibility. Many people do not know that they are at risk because they usually have no symptoms in everyday life.
Malignant hyperthermia susceptibility is generally inherited in an autosomal dominant pattern. This means that when a family member carries a related genetic variant, their children and other relatives may also inherit the risk.
Genes commonly associated with malignant hyperthermia include:
๐ RYR1
๐ CACNA1S
People with variants in these genes may remain completely healthy until they are exposed to a triggering anaesthetic drug.
Which Drugs May Trigger Malignant Hyperthermia?
Drugs associated with malignant hyperthermia include:
๐ Volatile halogenated anaesthetic agents, such as isoflurane, desflurane, halothane, and sevoflurane
๐ Succinylcholine, a muscle-relaxant medication used during anaesthesia
When a susceptible person receives one of these drugs, uncontrolled calcium release may occur inside muscle cells. This can cause intense muscle activity, excessive heat production, and a rapid increase in metabolism.
Who Should Consider Malignant Hyperthermia Risk Screening?
Genetic or specialist assessment may be considered for people who:
๐ Have a relative who experienced a serious problem during general anaesthesia
๐ Have a family history of malignant hyperthermia
๐ Are planning surgery or a procedure requiring general anaesthesia
๐ Have certain muscle disorders or conditions associated with abnormal muscle function
๐ Previously experienced unexplained high fever, muscle rigidity, rapid heart rate, or severe complications during anaesthesia
Patients should always inform the surgeon and anaesthesiologist about any personal or family history of unusual reactions to anaesthetic drugs.
Genetic Testing Can Help Reduce Risk Before Surgery
Genetic screening may help doctors assess a person’s susceptibility to malignant hyperthermia and plan anaesthesia more safely.
When an increased risk is identified, the medical team can:
๐ Avoid known triggering anaesthetic drugs
๐ Select alternative medications
๐ Prepare appropriate monitoring and emergency equipment
๐ Ensure that treatment such as dantrolene is available when required
๐ Provide information that may also be relevant to other family members
Malignant Hyperthermia Genetic Screening by N Health
The Malignant Hyperthermia Screening by RYR1 and CACNA1S Genotyping package from N Health is designed to assess genetic variants associated with susceptibility to malignant hyperthermia.
Key features include:
๐ Screening of the major genes associated with malignant hyperthermia risk
๐ Use of internationally recognised laboratory technology
๐ A straightforward testing process
๐ Results that may provide lifelong genetic information
Because genetic test results require medical interpretation, they should be reviewed together with personal history, family history, and an assessment by an appropriate medical specialist.
Testing before surgery may help the anaesthesia team plan a safer approach and reduce the risk of a severe malignant hyperthermia reaction.
Reference :
N Health
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