[Modern diagnostic approaches to malignant hyperthermia susceptibility]

Area of Science:

• Pharmacogenetics
• Muscle physiology
• Clinical diagnostics

Context:

• Malignant hyperthermia is a rare, life-threatening autosomal dominant pharmacogenetic disorder.
• The halothane-caffeine contracture test serves as the gold standard for diagnosing malignant hyperthermia susceptibility (MHS).
• Current diagnostic approaches include in-vitro muscle testing and genetic analysis, each with distinct advantages and limitations.

Purpose:

• To review the halothane-caffeine contracture test as a gold standard for MHS diagnosis.
• To compare the efficacy of the contracture test with genetic analysis for MHS.
• To discuss the essential methods for MHS diagnosis and their integration into modern clinical practice in Russia.

Summary:

• The article reviews the halothane-caffeine contracture test, an in-vitro model of muscle response to triggers, recognized as the gold standard for diagnosing malignant hyperthermia susceptibility (MHS).
• It contrasts this method with genetic analysis, noting the latter's lower sensitivity despite being less invasive.
• The review emphasizes the importance of reproducing these diagnostic methods in Russia and their role in contemporary MHS management.

Impact:

• Provides a comprehensive overview of established and emerging diagnostic tools for MHS.
• Highlights the critical need for accurate and accessible MHS diagnostic capabilities.
• Facilitates informed decision-making regarding MHS diagnosis and patient management strategies.