家族性低叶酸血症伴快速侵袭性动静脉血栓形成患者的6年追踪结果

Familial hypofolatemia with rapidly aggressive arteriovenous thrombosis: a 6-year follow-up of a patient

摘要:

该文追踪1例低叶酸血症患者6年，观察患者体内血栓的动态演变过程。对该例患者进行了叶酸水平、同型半胱氨酸、维生素B₁₂水平监测，同时监测患者的颈动脉超声、下肢动脉超声、头颅磁共振成像和磁共振血管成像，并获得患者的基因学检测结果。第1年，患者出现了左侧大脑中动脉皮质支闭塞（叶酸2.23 ng/mL）。第2年，患者出现了左下肢深静脉血栓（叶酸2.58 ng/mL）。第3年，患者出现左侧颈内动脉颅内段大部分闭塞（叶酸2.16 ng/mL）。第4年，患者出现右下肢深静脉血栓+左侧颈内动脉颅外段狭窄+右下肺静脉血栓形成（叶酸2.27 ng/mL），此时启动了补充叶酸治疗。第5年，患者未再新发血栓。采用DNA微阵列法检测发现，该例患者基因组中MTHFR基因677位为T/T纯合型（突变型）。第6年，患者死于肺炎。该类型突变的患者会出现低叶酸血症，导致快速侵袭性、全身动静脉多发性血栓，补充叶酸治疗可能有效。

Abstract:

A patient with hypofolatemia was followed up for 6 years to observe the dynamic evolution of thrombus. The levels of folic acid， homocysteine， and vitamin B₁₂ were monitored， as well as carotid artery ultrasound， lower extremity arterial ultrasound， cranial MRI， and MRA， and genetic testing results were obtained. The patient experienced occlusion of the cortical branch of the left middle cerebral artery （folic acid 2.23 ng/mL） in the first year， deep vein thrombosis of the left lower extremity （folic acid 2.58 ng/mL） in the second year， and occlusion of most of the intracranial segment of the left internal carotid artery （folic acid 2.16 ng/mL） in the third year. In the fourth year， the patient experienced deep vein thrombosis of the right lower extremity， stenosis of the extracranial segment of the left internal carotid artery， and venous thrombosis of the right lower lung， with a folic acid level of 2.27 ng/mL， and folate supplementation was initiated at this time. New-onset thrombus was not observed in this patient in the fifth year. DNA microarray analysis showed T/T homozygous type （mutant type） at the 677 locus of the MTHFR gene. The patient died of pneumonia in the sixth year. Patients with such mutation may develop hypofolatemia， leading to rapidly aggressive multiple arteriovenous thrombosis throughout the body， and folate supplementation might be an effective treatment method.