這是一種常染色體顯性遺傳疾病。

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原本只是一臺常規的外科手術，誰料術中出現了突發危急狀況！日前，一名中年男性患者在上海市共衛生臨床中心接受骨科手術時，術中突發惡性高熱，情況十分危急。麻醉醫護團隊默契配合，經過4個多小時的全力救治，患者最終轉危為安。

該患者正值壯年，原本該手術進行得十分順利，已經完成大部分手術步驟。此時，患者突然出現心率驟增，在短時間內超過了140次/分鐘，隨之監護儀顯示患者呼氣末二氧化碳分壓已超過110mmHg，同時血壓驟降。

麻醉科主任王利聞訊后，迅速趕到手術間，經過快速鑒別排查，發現患者體溫已接近40攝氏度，臨床診斷指向了最兇險的術中麻醉危象——惡性高熱。王利深知，這是一種常染色體顯性遺傳疾病，通常由吸入性麻醉藥物及去極化肌肉松弛劑誘發，臨床表現為體溫急劇升高、心動過速、心律失常、低血壓等，患者常在短時間內因多器官功能衰竭導致死亡。一旦發病，極其兇險，搶救窗口期極短。

時間就是生命，全體在院的麻醉科醫護全員到位，他們各司其職：管理呼吸、開放中心靜脈通道、建立高級血流動力學監測、實施全身降溫、檢測生化及內環境指標、升壓糾酸降鉀。在實施急救的同時，根據患者病情需要，公衛中心立即向兄弟醫院申請調用惡性高熱的特效急救藥物—丹曲林鈉。經過一番苦戰，患者的生命體征逐漸好轉，體溫逐漸下降，但呼吸循環、內環境及代謝等狀態仍不穩定，隨時有心跳驟停的風險。

在這緊要關頭，特效急救藥快速送達，隨著藥物緩慢注入患者的體內，兇險的惡性高熱被徹底制服。當晚9時許，患者轉危為安，被送往重癥監護室后續觀察治療。第二天，該患者意識完全清醒，生命體征平穩，順利脫機拔管，未發生任何不良后果。

惡性高熱是全球麻醉界談之色變的致命麻醉并發癥，極為罕見但致死率極高。作為一種基因遺傳性代謝異常綜合征，該病發病率僅約五萬分之一。患者平時無異常表現，一旦誘發將出現持續性肌肉代謝亢進，產熱急劇增加，核心體溫急劇升高和重度酸中毒。患者體溫可迅速升至42℃以上且常規降溫措施無效，同時產生大量乳酸和二氧化碳；病情惡性發展，出現嚴重酸中毒、低氧血癥、高血鉀和心律失常等一系列變化，最終死于多器官功能衰竭。大多數病例與RYR1基因突變有關，當存在這種基因缺陷時，患者暴露于某些誘發藥物下，會觸發細胞內鈣離子濃度失控性增加，導致肌肉纖維持續興奮并產熱。隨著特效藥物進入臨床使用，惡性高熱的死亡率已降至2%至3%左右。

王利表示，對于惡性高熱不必過度恐慌，若家中曾有親人在以往接受麻醉過程中出現不明原因意外高熱，可以提前告知麻醉醫生。隨著醫療技術的進步，目前對于惡性高熱易感人群已有了針對性較強的基因篩查技術，可以及時做出術前診斷，以便麻醉醫生更好地選擇麻醉方法及麻醉藥物，保證患者的麻醉安全。