Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy

ABSTRACT Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.

摘要 同型半胱氨酸尿症（homocystinuria）是一种可治疗的常染色体隐性遗传性疾病，该病症可引发血栓栓塞事件等危及生命的并发症。新型冠状病毒肺炎（Coronavirus disease 2019，COVID-19）与静脉血栓栓塞事件的发病风险升高存在关联。本文报告1例以深静脉血栓形成（deep venous thrombosis）及新型冠状病毒肺炎为临床表现的迟诊同型半胱氨酸尿症病例。本研究强调，需持续保持对同型半胱氨酸尿症的高度怀疑，以预防严重血栓栓塞并发症的发生。