与凝血酶原G20210A和因子V（莱顿）杂合性以及亚甲基四氢叶酸还原酶C677T纯合性相关的萎缩性硬化性苔藓样血管病

Livedoid vasculopathy associated with combined prothrombin G20210A and factor V (Leiden) heterozygosity and MTHFR C677T homozygosity.

作者信息

Irani-Hakime Noha A, Stephan Farid, Kreidy Raghid, Jureidini Isabelle, Almawi Wassim Y

机构信息

Department of Laboratory Medicine, St. Georges University Hospital, Beirut, Lebanon.

出版信息

J Thromb Thrombolysis. 2008 Aug;26(1):31-4. doi: 10.1007/s11239-008-0214-1. Epub 2008 Mar 23.

DOI:10.1007/s11239-008-0214-1

PMID:18360788

Abstract

Livedoid vasculopathy (LV) is an occlusive thrombotic disease of lower extremities. A 34-year-old woman presented with 4-year history of recurrent necrotic and painful lesions with violaceous and purpuric border on both legs. Initial treatment with hydroxychloroquine, dapsone and prednisone were unsuccessful. Skin biopsy showed inflammatory infiltrate with epidermal necrosis. Prothrombin G20210A and factor V-Leiden heterozygosity, and MTHFR C677T homozygosity with hyperhomocysteinemia were confirmed. LV diagnosis was made; acetylsalicylic acid, folic acid, vitamin B12, and prednisone treatement resulted in complete healing. This is the first report on coexistence of prothrombin G20210A, factor V-Leiden, and homozygous MTHFR C677T with hyperhomocysteinemia in LV.

摘要

萎缩性硬化性苔藓样血管病（LV）是一种下肢闭塞性血栓形成疾病。一名34岁女性，双下肢出现坏死性疼痛性病变4年，病变边界呈紫罗兰色和紫癜色。最初使用羟氯喹、氨苯砜和泼尼松治疗均未成功。皮肤活检显示有炎症浸润伴表皮坏死。已证实存在凝血酶原G20210A和因子V-莱顿杂合子，以及伴有高同型半胱氨酸血症的亚甲基四氢叶酸还原酶（MTHFR）C677T纯合子。诊断为LV；阿司匹林、叶酸、维生素B12和泼尼松治疗后实现完全愈合。这是关于LV中凝血酶原G20210A、因子V-莱顿和纯合子MTHFR C677T与高同型半胱氨酸血症共存的首例报告。