Description An inherited disord...
Description
An inherited disorder in which patients can have serious adverse reactions to certain anesthetic drugs. The disorder is characterized by a sudden and dangerous elevation of the body temperature usually after receiving anesthetic gas or the paralytic drug succinylcholine. This disorder is autosomal dominant meaning that only one parent must have the disease to pass the disorder on to their children. The disease can be very serious causing permanent injury to the kidneys and result in death.
Symptoms
Rapid rise in temperature to 105 degrees F or higher, muscle rigidity and stiffness, dark brown urine, muscle ache.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Tests to identify the defective gene can be performed. A family history of similar problems may be discovered. Other tests to determine damage done by the high fever will be done.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), CT Scan, Electrocardiogram (EKG), Urinalysis (UA), X-ray
Other Specific Tests: Genetic testing to look for defects in the RYR1 gene, Muscle biopsy, Myoglobin in the urine
Specialists:
Anesthesiology, Critical Care Medicine
Workup:
A history and physical exam will be performed. Tests to identify the defective gene can be performed. A family history of similar problems may be discovered. Other tests to determine damage done by the high fever will be done.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), CT Scan, Electrocardiogram (EKG), Urinalysis (UA), X-ray
Other Specific Tests: Genetic testing to look for defects in the RYR1 gene, Muscle biopsy, Myoglobin in the urine
Specialists:
Anesthesiology, Critical Care Medicine
Treatment
Treatment includes: a cooling blanket and intravenous fluids to help reduce fever. Dantrolene is a muscle relaxant and has been shown to decrease the mortality of malignant hyperthermia.