Genetics of hyperthermia

Malignant Hyperthermia and Discovering New Genetic Differences

What is Malignant Hyperthermia?   

Malignant hyperthermia (MH) is a reaction to specific anesthesia medicine used during surgical procedures. Those who have this condition experience high fevers and intense muscle spasms or tightness.  Treatment for MH can include medications and ice packs to reduce fever and muscle breakdown. There is no cure for MH. 

This condition happens because of known and new genetic markers that make a person respond badly to certain anesthesia. These genetic markers can be passed down in families. Some hospitals check for a handful of genetic clues that can tell if a patient will have an allergic reaction to anesthesia. Those genetic clues are outdated and more genes are known to be linked to MH. Those genes are not yet categorized as either causing or not causing MH like the markers that have been used for a long time.  The study goal is to find new clues and genetic markers that lead to this disease.

How is the research done? 

The researchers want to find out if there are any genetic differences that are linked to having MH that are not currently being screened for. The study team will look at patients with and without MH after they have been exposed to specific anesthesia medicines. They will look for those who have had surgery but did not get sick after having the medications. The team wants to find specific genetic markers that could be linked to MH. This may help the team find specific markers that explain why some get sick and others do not.

What is the importance of this study? 

The number of patients with this condition continues to grow and the care for this condition can be costly. Medical professionals are looking for more markers to detect risks for MH. This will help us learn more about those at risk for this condition. These markers could then be used to develop better screening methods and treatments for patients at risk for MH.