Malignant Hyperthermia: A Killer You May Have in Your Genes, Kentucky

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You receive the phone call from your mother: Your favorite uncle just died while undergoing a common surgical procedure, and the surgeons are not sure why he died.

“They just don’t know,” your mother says. “Dr. Markus said it may have been malignant hyperthermia.”


A Genetic Sneak

Malignant hyperthermia, or MH, is an inherited condition in which the body responds to certain common general anesthetics and other drugs with a biochemical chain reaction. Specifically, these individuals have a mutation that causes abnormal proteins in their muscle cells.

Some anesthetic drugs, excessive heat, or strenuous exercise produces an abnormal release of calcium in muscles cells. This causes sustained muscle contraction and, consequently, elevated metabolism and body heat. The muscle cells eventually die, releasing into the blood excessive amounts of potassium, leading to cardiac arrhythmia, and the muscle pigment myoglobin, which may be toxic to kidneys.

Children and siblings of a person discovered to have susceptibility to MH have a 50-percent chance of inheriting it. Only one parent needs to carry the gene for children to have the condition as well.

Symptoms and Possible Consequences of MH

Although MH may occur with diseases such as myopathy and muscular dystrophy, often the condition is discovered when the person receives general anesthesia during surgery. PubMed Health lists the following symptoms of MH:

  • a rapid rise in body temperature to 105°F or higher;
  • severe muscle contractions;
  • bleeding;
  • dark brown urine; and
  • muscle ache that is not preceded by exercise or an injury.

Even when RH-susceptible individuals have been identified, the following complications may still occur:

  • cardiac arrest;
  • kidney failure;
  • brain damage;
  • buildup of fluid in the lungs;
  • amputation;
  • compartment syndrome (swelling, circulation problems, and abnormal nerve function in the hands and feet);
  • blood coagulation problems;
  • internal bleeding;
  • liver failure;
  • metabolic acidosis (buildup of acid in body fluids); and
  • death.

Treatment of MH

Because RH is a genetic disorder, close family members of people known to have the disorder must be considered potentially susceptible and treated as if they have the condition. These people must ensure that their doctors and anesthesiologists are aware of the possibility and take the necessary precautions, such as

  • avoiding the use of MH-triggering anesthetics,
  • being aware of the symptoms of MH,
  • continuously monitoring the patient’s temperature and carbon dioxide concentration, and
  • having the necessary components of an MH treatment kit on hand during and after the operation in case of a crisis.

Tests such as the following can be run to identify susceptible individuals:

  • genetic test for defects in the RYR1 gene;
  • Chem-20;
  • muscle biopsy; and
  • urine myoglobin (muscle protein) determination.

If your loved one has died or suffered brain damage during a medical procedure in Louisville, you should get legal advice from an experienced medical malpractice attorney in Kentucky. Call Gray and White Law at 502-210-8942 or toll free at 888-450-4456 to set up a FREE, no-obligation consultation.