Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An account is given of unusual course of a hyperthermic crisis in a 23-year-old male who underwent repeated anesthetics. As yet little has been reported about Isoflurane, which we presume to have been the triggering agent. In this case only the surgically untreated lower extremity developed rigor, with which malignant hyperthermia is associated, whereas the surgically treated extremity, where circulation had been stopped with a tourniquet, remained unaffected. Rigor and contracture of the affected extremity were so severe that they led to a compartment syndrome, necessitating fasciotomy. No observation of this kind has been published before. In addition to a discussion of this dissociated effect in malignant hyperthermia, a detailed account of the course of the crisis is given.
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PMID:[Malignant hyperthermia. An unusual course of a rare disease]. 340 97

The purpose of this case report is to increase awareness that a diagnosis of malignant hyperthermia may have long-lasting or permanent effects on a patient's insurance eligibility or premiums despite legislation providing varying levels of protection from preexisting conditions or genetic discrimination. We present a case of severe rigors, unexplained severe metabolic acidosis, and severe hyperthermia in a patient after general anesthesia for extensive head and neck surgery. The patient was treated for malignant hyperthermia and demonstrated a significant clinical improvement with the administration of dantrolene. Even with an "almost certain" diagnosis of malignant hyperthermia by clinical presentation, genetic testing was negative and the gold-standard caffeine-halothane contracture test has yet to be performed. Laboratory results, clinical grading scales, and genetic testing support a diagnosis of malignant hyperthermia but the gold standard is a live muscle biopsy and caffeine-halothane contracture test. A clinical diagnosis of MH or a positive caffeine-halothane contracture test could result in exclusion from genetic discrimination legislature due to the fact that diagnosis can be confirmed without genetic testing. The fate of the Affordable Care Act may also affect how insurance companies scrutinize this disease. Improving accuracy of MH diagnosis in hospital discharge records will be crucial.
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PMID:A Case Report of Suspected Malignant Hyperthermia: How Will the Diagnosis Affect a Patient's Insurability? 3051 Aug 8