Liu_2026_J.Family.Med.Prim.Care_15_1880

Cholinesterase deficiency is a rare genetic disorder that impairs the activity of acetylcholinesterase and butyrylcholinesterase. It causes severe perioperative risks due to prolonged neuromuscular blockade induced by succinylcholine and ester-based anesthetics, and may lead to life-threatening complications such as respiratory depression and cardiovascular instability, thus requiring personalized anesthesia protocols for affected patients. A comprehensive literature review was conducted to synthesize the pathophysiology, genetic basis, and pharmacokinetic impacts of cholinesterase deficiency on anesthetic drugs, and clinical case analyses were performed to validate perioperative management strategies. Genetic mutations such as BCHE c. 695T>A are the primary etiology, and butyrylcholinesterase deficiency is more prevalent and associated with significant anesthetic adverse events. The use of alternative anesthetic agents including non-depolarizing neuromuscular blockers and amide-type local anesthetics, as well as reversal agents such as sugammadex, can significantly reduce perioperative risks. Multimodal monitoring including train-of-four and neurophysiologic monitoring and preoperative screening further optimize safety. Five clinical cases confirmed the efficacy of tailored strategies in diverse surgical settings. Proactive preoperative screening, cholinesterase-independent anesthetic regimens, and interdisciplinary collaboration are pivotal for mitigating risks in cholinesterase-deficient patients. Emerging advances including CRISPR gene therapy and AI-driven pharmacokinetic models hold great promise for precision anesthesia, while genetic counseling remains essential for long-term patient management.