妙齡女青春變調 憂鬱症全身抖不停 竟是罕病「威爾森氏症」找上她
2022-07-08 記者莊兆暉／台南報導
芳齡20歲的小真今年初突然出現憂鬱症及學習障礙，連帶還有肢體顫抖、吞嚥困難、運動失調等症狀，進行核磁共振檢查發現異常，前往奇美醫學中心求診，經跨部門診斷，判讀肝臟切片檢體、特殊染色體基因檢測後，確定小真罹患罕見疾病「威爾森氏症」，造成銅離子代謝異常，肝、腎、角膜、腦部都會產生病變，經過藥物治療及飲食控制，狀況已經有所改善。
20歲少女罹患罕病「威爾森氏症」，經過藥物治療及飲食控制，已有明顯改善。(奇美醫學中心提供)
奇美醫學中心胃腸肝膽科主治醫師楊畯棋指出，威爾森式症屬罕見疾病，每3萬人中就有1人可能罹患，台灣估計約有400名患者，該病症不易診斷，除了肝功能異常外，5成病患會出現類似帕金森氏症的動作障礙，包括吞嚥及言語障礙，4成病患伴隨人格改變、憂鬱症等情形，發病後造成銅離子的排泄異常，導致過多的銅在體內堆積，嚴重者常演變成肝硬化、癲癇、或嚴重動作障礙疾病。
奇美醫學中心目前已設立遺傳諮詢中心，提供罕見疾病諮詢與照護服務，並也常備第一線與第二線之治療藥物。(奇美醫學中心提供)
楊畯棋說，及早發現並接受藥物治療及低酮飲食控制，才能阻止疾病惡化，患者須終身服用銅螯合藥物，以利身體持續排銅，另外切忌食用如巧克力、海鮮、內臟、全穀類、堅果與果乾、酒精飲料等含銅量較高的食物，避免因銅過度堆積於器官，對人體產生毒性及破壞，引發致命危機。
楊畯棋表示，奇美醫學中心目前已設立遺傳諮詢中心，提供罕見疾病諮詢與照護服務，並也常備第一線與第二線之治療藥物，以威爾森氏症為例，若民眾有治療的需求，可以掛號肝膽內科、神經內科、或是小兒科醫師的門診，院方將會提供充分的資訊與治療。
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