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I recently had the opportunity to participate at the North American Malignant Hyperthermia Registry (NAMHR)1 as part of my Research Practicum course at the University of Pittsburgh Nurse Anesthesia Program2. I was able to learn about NAMHR and the registration process as well as gain a more in-depth knowledge of malignant hyperthermia (MH)3. I was able to read about MH cases that occurred, how, when, and what symptoms were identified and the treatment that followed. There was one case that particularly that affected me and was written about in the article Death in the Emergency Department: An Unrecognized Awake Malignant Hyperthermia-Like Reaction in a Six-Year-Old4. Prior to reading this article I believed MH had to be triggered by an anesthetic agent or succinylcholine5, but this disproved my belief.
To summarize what happened as described in this article4, a little boy was playing outside on a hot day for 10 minutes. His lower legs became stiff, he felt like his heart was pounding and he had a high fever. His mother took him to the hospital and on the way there his jaw became stiff and he had difficulty speaking. By the time he got to the emergency department (ED) his temperature was 108.9OF, heart rate was 190, and respiratory rate 60. The ED staff decided he must be having seizures and attempted to treat the suspected seizures and fever. After 18 minutes this proved to be unsuccessful, and the decision was made to protect his airway with a breathing tube as he was having significant respiratory distress. A fast acting paralytic, succinylcholine, was given to facilitate placement of the breathing tube. It did not have the desired effect of relaxing the jaw so a second dose was administered. Shortly thereafter, his heart rate fell and then stopped beating. The ED staff tried to resuscitate the boy, but they were unsuccessful. His medical record was reviewed and a common trait amongst his father and two siblings was late onset walking at 17 months and a lumbar lordosis6. Genetic testing revealed a novel variant of the ryanodine receptor7, the location for genetic alterations associated with MH, and histology from a muscle biopsy of the father revealed central core disease8, a myopathy associated with MH.
The mission of NAMHR is “to acquire, analyze, and disseminate case-specific clinical and laboratory information related to MH”. The director of this MH registry is Dr. Barbara Brandom9, of Children’s Hospital of Pittsburgh of UPMC10. The registry is located at UPMC Mercy11. Information gathered includes data from Caffeine Halothane Contracture Tests12, Adverse Metabolic or Muscular Reaction to Anesthesia reports (AMRA)13, and Already Known As MH Susceptible (AKA)14 forms. Researchers can contact the registry for data and registered individuals who have consented may be contacted to participate in studies. Additionally, family members can contact the registry to find out about the status of a relative as long as consent for identification was given.3
After this little boy’s mother called the NAMHR, Dr. Brandom decided to integrate suitable data from the NAMHR with the Global Rare Diseases Patient Registry and Data Repository (GRDR)15. The mission statement of the GRDR is to provide “the rare disease community a resource of standardized aggregated de-identified patient information to accelerate research and advance therapeutic development”. The GRDR does this by taking data from new and existing registries as well as specimens, assigning them a unique ID, and then entering the data into a de-identified registry. Researchers can then access the de-identified data for studies or clinical trials and can contact registered individuals through their respective registries to inquire about participation in new studies or trials. The purpose of the integration of NAMHR with the GRDR was to increase awareness and recognition of MH. By increasing visibility of the condition then perhaps MH would receive a share of the interest of rare disease research. The eventual goal is to eliminate MH-related deaths.
Patients registered in NAMHR are individuals that have had a metabolic or muscular reaction to anesthesia and/or have undergone an exam of the ryanodine receptor gene in which MH causing mutations are found or a muscle biopsy that is tested for MH with a Caffeine Halothane Contracture Test regardless of MH susceptibility. These contracture test results16 are converted to numerical data that are entered into the biopsy report. Patients can be registered as someone identified that may be contacted for future studies or they may have their data entered de-identified. The AMRA does not include the name, birthday or address of the patient who experienced the anesthetic complication. Upon receiving either a biopsy report, AKA or an AMRA, a file is started for that individual and a registry number is assigned to the patient file. The data is entered into the registry and then reconciled which means that it is looked over twice for accuracy. A letter is generated for the patient, if they have agreed to but their name and address in the file, and another for the biopsy center detailing some patient information and the assigned registry number. Once this is done, the file is completed and stored.
Upon my arrival to NAMHR, they were in the process dealing with old files that had been sent to them. These files needed senior reconciliation and letter generation to be performed, in which I assisted along with some other tasks that arose during my time there. The goal of completing the data reconciliation and letter generation for all of these files was accomplished. Once these files were reconciled and completed, the data was then locked and available for use in the registry and therefore complete for integration into the GRDR.
Hopefully Dr. Brandom’s goal of increasing MH awareness will be accomplished and that research interest will be fostered via integration with the GRDR. Achieving the goal of eliminating MH-related deaths requires having a high index of suspicion and treating with dantrolene17 quickly. Additionally, it is important to remember that muscular rigidity with hyperthermia, regardless of triggering agent exposure, should be met with suspicion for MH.
Valerie Pomerantz RN, BSN
University of Pittsburgh
Nurse Anesthesia Program
Class of 2013 - Fall