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題 名 | Surgical Excision of the Tendon Xanthoma in Familial Hypercholesterolemia--a Case Report=家族性高膽固醇血症肌腱黃色瘤之外科切除 |
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作 者 | 林高田; | 書刊名 | The Kaohsiung Journal of Medical Sciences |
卷 期 | 15:7 1999.07[民88.07] |
頁 次 | 頁441-446 |
分類號 | 416.64 |
關鍵詞 | 家族性高膽固醇血症; 肌腱黃色瘤; 外科切除; Tendon xanthoma; Familial hypercholesterolemia; Hand surgery; |
語 文 | 英文(English) |
中文摘要 | 家族性高膽固醇血症是一種常見的體染色體顯性遺傳疾病,以低密度脂蛋白攜帶的血膽固醇升高,肌腱黃色瘤及末成年的粥狀動脈硬化為特徵。近年來許多低密度脂蛋白接受器基因上的突變被發現出來,為家族性高膽固醇血症之基本缺陷所在。而肌腱黃色瘤之出現為家族性高膽固醇血症之診斷提供早期之佐證。我們經驗一病例為42歲之男性,在其右手背食指及中指指掌關節,左肘及雙膝伸側,雙側之後跟腱長有黃色瘤。病理切片可以看到黃色瘤細胞散佈在肌腱纖維之中,証實臨床之診斷。本病例傷口癒合較為緩慢,手術後滿10天拆線之後2天右手背之傷口再度裂開。我們建議此類病人需仔細評估,傷口完全癒合之後才拆線。對手外科醫師而言,肌腱黃色瘤之重要性在於認知其為一種可能會致命的疾病的早期症候,也就是家族性高膽固醇血症。早期發現以利於病人及其家族之早期接受評估及治療。肌腱黃色瘤之外科切除主要是因功能或是美觀上之考量。 |
英文摘要 | Familial hypercholesterolemia is an autosomal dominant disorder characterized by increased low-density lipoprotein cholesterol, premature atherosclerosis and tendon xanthomas. Genetic studies reveal familial hypercholesterolemia to be a dysfunction of LDL receptor gene on cell surface. Recently various mutations in the LDL receptor gene have been reported. When DNA method is not available, the occurrence of tendon xanthomas, an isolated elevation of plasma cholesterol, with a normal concentration of plasma triglycerides virtually establishes the diagnosis of familial hypercholesterolemia. In this report, a 42-year-old male had tendon xanthoma at extensor surface of metacarpophalangeal joint of his right hand, olecranon of the left elbow and both knees, and Achilles tendons. The tendon xanthoma was excised for cosmetic reasons, and the wound healing was slower than average in this case. We suggest that before suture removal, wound healing must be complete. It is important that the hand surgeon recognize that tendon xanthoma is a physical sign of a potentially life-threatening disorder to the patient as well as his family, and that this disorder may respond favorably to early examination and management. |
本系統中英文摘要資訊取自各篇刊載內容。