Accelerated Atherogenicity in Tangier Disease.
Accelerated Atherogenicity in Tangier Disease.
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加速了探针疾病的动脉粥样硬化。
DOI：
10.5551/jat.43257
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发表时间：
2018-10-01
影响因子：
4.4
通讯作者：
Yamashita S
中科院分区：
文献类型：
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作者：
Muratsu J;Koseki M;Masuda D;Yasuga Y;Tomoyama S;Ataka K;Yagi Y;Nakagawa A;Hamada H;Fujita S;Hattori H;Ohama T;Nishida M;Hiraoka H;Matsuzawa Y;Yamashita S
我们报告一例丹吉尔病合并Leriche综合征并有出血倾向。在这名男性患者中，在整个儿童时期经常观察到鼻出血。46岁时，患者发生劳力性心绞痛，冠状动脉造影显示右冠状动脉狭窄75%。观察到橙色扁桃体、轻度肝脾肿大和极低水平的血清高密度脂蛋白胆固醇（HDL-C），患者被诊断为丹吉尔病。52岁时，劳力性心绞痛复发。冠状动脉造影显示左主干、左前降支和右冠状动脉狭窄75%。还记录了头臂动脉和右髂总动脉狭窄。植入支架，并进行冠状动脉搭桥手术。53岁，术后15个月，患者报告间歇性跛行、脚冷和阳痿。主动脉造影显示髂总动脉分叉处狭窄进展。患者被诊断为Leriche综合征，并进行了髂外动脉旁路移植术。术后，观察到皮下组织渗血和吻合部位渗漏。进一步的分析显示，ATP结合盒转运蛋白A1（ABCA 1）基因中存在两种单核苷酸多态性（V825 I和N935 T），小而密的低密度脂蛋白蓄积以及低水平的HDL-C。在丹吉尔病中，HDL-C由于ABCA 1缺乏而显著降低。然而，这是第一个报告的情况下，表现出广泛的动脉粥样硬化和出血倾向。该患者有非典型广泛和多发性动脉粥样硬化病变，伴有Leriche综合征和无法控制的出血。
We report a case of Tangier disease with Leriche syndrome and bleeding tendency. In this male patient, nasal hemorrhage had been observed frequently throughout childhood. At 46 years old, he experienced effort angina, and coronary angiography demonstrated 75% stenosis in the right coronary artery. Orange-colored tonsils, mild hepatosplenomegaly and very low levels of serum high-density lipoprotein cholesterol (HDL-C) were observed, and the patient was diagnosed with Tangier disease. At 52 years old, effort angina recurred. Coronary angiography revealed 75% stenosis of the left main trunk, left anterior descending, and right coronary arteries. Stenosis of the brachiocephalic and right common iliac arteries was also recorded. Stents were implanted, and coronary artery bypass surgery was performed. At 53 years old, 15 months after surgery, the patient reported intermittent claudication, coldness of feet, and impotence. Aortic angiography showed progression of the stenosis at the bifurcation of the common iliac artery. The patient was diagnosed with Leriche syndrome, and aorta–left external iliac artery graft bypass surgery was performed. After surgery, oozing from subcutaneous tissue and leaking from the anastomotic region were observed. Additional analysis revealed two single-nucleotide polymorphisms (V825I and N935T) in the ATP-binding cassette transporter A1 (ABCA1) gene, and accumulation of small dense low-density lipoprotein together with low levels of HDL-C. In Tangier disease, HDL-C is markedly decreased because of ABCA1 deficiency. However, this is the first reported case to exhibit extensive atherosclerosis and bleeding tendency. This patient had atypical extensive and multiple atherosclerotic lesions, accompanied by Leriche syndrome and uncontrollable bleeding.