蛋白C缺乏是一种由蛋白C突变引起的罕见遗传疾病,凝血因子Va和VIIA基因失活,影响大约200-500人中的1人。它会导致高凝状态,增加血栓的风险。症状随年龄而变化,从危及生命的新生儿暴发性紫癜到静脉血栓栓塞,尤其是深静脉血栓,在成年人。最近一宗个案涉及一名二十一岁的南亚男性持续发烧,减肥,鼻出血,腹部压痛,右大腿和腿部剧烈疼痛,怀疑深静脉血栓形成.测试证实多腿部静脉深静脉血栓形成和肺栓塞。患者被诊断为蛋白C缺乏症,并接受抗凝治疗,溶栓,和下腔静脉滤器.C蛋白缺乏的并发症包括深静脉血栓,肺栓塞,中风,和缺血性结肠炎。诊断涉及免疫测定和遗传分析。治疗包括肝素和华法林抗凝治疗。在严重的情况下,可植入下腔静脉滤器。由于多发性深静脉血栓形成和肺栓塞,所述病例需要广泛治疗。终身抗凝治疗。对于有静脉血栓栓塞病史的年轻患者,早期诊断和适当的管理对于预防和管理与C蛋白缺乏相关的并发症至关重要。
Protein C deficiency is a rare genetic disorder caused by mutations in the protein C, inactivator of coagulation factors Va and VIIA gene, affecting approximately 1 in 200-500 individuals. It leads to a hypercoagulable state, increasing the risk of blood clots. Symptoms vary with age, ranging from life-threatening purpura fulminans in neonates to venous thromboembolism, particularly deep vein thrombosis, in adults. A recent
case involved a 21-year-old South Asian male presenting with persistent fever, weight loss, epistaxis, abdominal tenderness, and acute pain in the right thigh and leg, raising suspicion of deep vein thrombosis. Tests confirmed deep vein thrombosis in multiple leg veins and a pulmonary embolism. The patient was diagnosed with protein C deficiency and received anticoagulant therapy, thrombolysis, and an inferior vena cava filter. Complications of protein C deficiency include deep vein thrombosis, pulmonary embolism, stroke, and ischemic colitis. Diagnosis involves immunoassays and genetic analysis. Treatment includes heparin followed by anticoagulation therapy with warfarin. In severe cases, an inferior vena cava filter may be implanted. The described
case required extensive treatment due to multiple deep vein thrombosis and a pulmonary embolism, with lifelong anticoagulant therapy. Early diagnosis and appropriate management are crucial in young patients with a history of venous thromboembolism to prevent and manage complications associated with protein C deficiency.