Asnake Zekarias T, Fishman Troy J, Sun Liang, Salabei Joshua K
Internal Medicine, University of Central Florida College of Medicine, Hospital Corporation of America (HCA) North Florida Division, Gainesville, USA.
Internal Medicine, University of Central Florida College of Medicine · Hospital Corporation of America (HCA) North Florida Division, Gainesville, USA.
Cureus. 2020 Apr 7;12(4):e7576. doi: 10.7759/cureus.7576.
Klippel-Trenaunay syndrome (KTS) is a rare genetic condition defined by capillary malformation, venous malformation, and soft tissue and bony overgrowth. Due to venous malformations, individuals are predisposed to intravascular coagulopathy leading to thrombosis and thromboembolism. However, anticoagulating these patients long-term remains a challenge because of the presence of capillary malformations that increase bleeding risk. We present a rare case of a 30-year-old Caucasian male with KTS and history of gastrointestinal bleeding who has been on anticoagulation since the age of 7 and has had three different inferior vena cava filters placed during his lifetime. At presentation, he had dyspnea with stable vital signs. His prothrombin time/international normalized ratio was 37.3 and 3.2, respectively and chest computed tomography showed bilateral segmental pulmonary embolism (PE). He was treated with heparin drip and his home anticoagulation was switched from warfarin to apixaban at the time of discharge for better anticoagulation optimization. KTS is a condition associated with venous thromboembolic complications that can be difficult to manage. PE should remain on the top of the list of differential diagnoses in patients with KTS presenting with dyspnea even if laboratory findings suggest an alternate diagnosis.
克-特综合征(KTS)是一种罕见的遗传性疾病,其特征为毛细血管畸形、静脉畸形以及软组织和骨骼过度生长。由于存在静脉畸形,患者易发生血管内凝血障碍,进而导致血栓形成和血栓栓塞。然而,长期对这些患者进行抗凝治疗仍然是一项挑战,因为存在增加出血风险的毛细血管畸形。我们报告一例罕见病例,一名30岁的白种男性患有KTS且有胃肠道出血史,自7岁起就接受抗凝治疗,一生中曾放置过三种不同的下腔静脉滤器。就诊时,他有呼吸困难,但生命体征稳定。他的凝血酶原时间/国际标准化比值分别为37.3和3.2,胸部计算机断层扫描显示双侧节段性肺栓塞(PE)。他接受了肝素静脉滴注治疗,出院时将其家庭抗凝治疗从华法林改为阿哌沙班,以更好地优化抗凝效果。KTS是一种与静脉血栓栓塞并发症相关的疾病,可能难以处理。对于出现呼吸困难的KTS患者,即使实验室检查结果提示其他诊断,肺栓塞也应始终位列鉴别诊断清单之首。