皮肤白细胞碎裂性血管病：高同型半胱氨酸血症是否起病因学作用？
Livedoid vasculopathy: does hyperhomocysteinaemia play an aetiological role?
机构信息
Department of Dermatology and Venereology, Martin Luther University Halle-Wittenberg, Halle (Saale).
Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Halle (Saale),, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
出版信息
Eur J Dermatol. 2019 Jun 1;29(3):287-293. doi: 10.1684/ejd.2019.3554.
BACKGROUND
Livedoid vasculopathy (LV) has been shown to be associated with hypercoagulability. However, relevant genetic and exogenous thrombophilic factors are not fully determined.
OBJECTIVES
To evaluate the frequency of hyperhomocysteinaemia (HHCE) and genotypes of hypercoagulative factors in LV patients.
MATERIAL AND METHODS
Plasma homocysteine level was measured in 42 LV patients. Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed.
RESULTS
Of the LV patients, 62% revealed mild HHCE. Polymorphisms of MTHFR were observed in 75% and 56% and the PAI1 -675 5G/4G polymorphism in 100% and 83% of patients with and without HHCE, respectively. All LV patients with renal failure had mild HHCE. A high level of comorbidity of hypertension (99%) and diabetes type 2 (44%) were noted.
CONCLUSION
HHCE seems to play a major pathogenetic role in LV. A high prevalence of further procoagulative factors might support the view that LV is a "complex disease".
背景
已证实皮肤白细胞碎裂性血管病（LV）与高凝状态相关。然而，相关的遗传和外源性血栓形成倾向因素尚未完全确定。
目的
评估 LV 患者发生高同型半胱氨酸血症（HHCE）和高凝状态相关因素基因型的频率。
材料和方法
检测 42 例 LV 患者的血浆同型半胱氨酸水平。分析 MTHFR（677C>T 和 1298A>C）、PAI1（-675 5G/4G 和 -844A>G）和 F2（20210G>A）的多态性以及 F5 莱顿突变和高凝状态的生化参数。
结果
62%的 LV 患者存在轻度 HHCE。75%和 56%的患者存在 MTHFR 多态性，分别有 100%和 83%的 HHCE 阳性和阴性患者存在 PAI1-675 5G/4G 多态性。所有肾衰竭的 LV 患者均存在轻度 HHCE。高血压（99%）和 2 型糖尿病（44%）的合并症发病率很高。
结论
HHCE 似乎在 LV 发病机制中起主要作用。存在更多促凝因子的高患病率可能支持 LV 是一种“复杂疾病”的观点。
Zotero 插件