people of the world

Periodic Paralysis News Desk

Resources for the Periodic Paralysis Community since 1995

PHYSICIAN'S INFORMATION SHEET

Malignant Hyperthermia

Periodic Paralysis Patients at Increased Risk of MH

It has long been recognized that patients with periodic paralysis are at increased risk for Malignant Hyperthermia (MH) during surgery. MH shows as fulminant muscle rigidity first seen in the jaw muscles, rhabdomyolysis, hypercarbia, and acidosis. Elevated core temperature is common, and hyperthermia may be a late sign. Ventricular dysrhythmia is the believed cause of death in fatal attacks and renal failure and neurologic injury may occur in survivors.

MH is one of the leading causes of death with anesthetics. Malignant hyperthermia susceptibility (MHS) is usually a dominantly inherited trait. Studies indicate that MHS is due to a malfunction in the mechanisms regulating sarcoplasmic calcium-ion fluxes. For further information on the genetics involved see Malignant Hyperthermia in Hyperkalemic PP and Malignant Hyperthermia in Hypokalemic PP.

Testing

Individuals at risk should be screened through in vitro muscle contracture testing (IVCT). Chromosome analysis is in early stages and is not yet a reliable diagnostic tool but is performed at research centers such as Royal Perth Hospital (Aus). Genetic testing is able to identify the already known mutations and research continues to identify other possible mutations.

IVCT requires a fresh specimen of vastus medialis approximately 3 x 1 x 1 cm. This is usually performed under femoral nerve block with minimal or no sedation required. For more information on how the procedure is performed read Current Diagnostic Testing for Malignant Hyperthermia, from the American Society of Anesthesiologists. This includes a contact which physicians may use to learn where they may send tissue samples for contracture tests.

Genetic Testing for MH

Genetic mutations in the RYR1 gene on chromosome 19 (the gene for the calcium release channel of the sarcoplasmic reticulum of skeletal muscle) have so far been identified in about 30% of affected families worldwide. It is likely that so far unidentified mutations account for another 20-30% of cases.

Mutations in the adult muscle sodium channel alpha subunit gene (SCN4A) on chromosome 17 and the alpha subunit of the dihydropyridine receptor gene (CACL1A3) on chromosome 1 have been identified in a small number of families. We have specimens from IVCT proven cases from 20 families. Six of these families have been shown to carry known mutations in the RYR1 gene. In those families not carrying an identified mutation, cDNA from affected individuals is being analysed for new mutations segregating with the disease. Blood from MH suspects can be tested from anywhere in Australia. Enquiries should be directed to Mark Davis, Neuroscientist at mark.davis@rph.health.wa.gov.au.

Management of Perioperative Rise in Temperature

Temperature rise perioperatively may be due to:

Manifestations of MH

Treatment of MH

If Malignant Hyperthermia is suspected in Theatre
If Malignant Hyperthermia is suspected in Recovery Room
If the Diagnosis of Malignant Hyperthermia is made
COOLING
ARRHYTHMIAS, ACIDOSIS, AND HYPERKALEMIA
RENAL FUNCTION
COAGULOPATHY
ONGOING MANAGEMENT
AT A LATER DATE

The content on this page is used with permission. It essentially mirrors that found at Anaesthesia WA Continuing Education - a combined committee of the Western Australian branches of the Australian Society of Anaesthetists and the Australian & New Zealand College of Anaesthetists and we recommend you visit their site for further information...