Zaaijer Baukje M, Duppen Nienke, Willemse Brigitte W M, Verhagen Martijn V, Roofthooft Marcus T R, Timens Wim, Berger Rolf M F, Douwes Johannes M
University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Cardiology, the Netherlands.
University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Pulmonology and Allergology, the Netherlands.
Respir Med Case Rep. 2021 Dec 1;34:101564. doi: 10.1016/j.rmcr.2021.101564. eCollection 2021.
We describe a case of an adolescent male with the rare combination of pulmonary arterial hypertension (PAH) and pulmonary arteriovenous malformations (PAVM's) without confirmed hereditary hemorrhagic telangiectasia (HHT). The patient showed clinical deterioration on standard vasodilator therapy, leading us to question our initial diagnosis. Post-mortem evaluation confirmed the presence of pulmonary veno-occlusive disease of which no conclusive signs were recognized at diagnostic work-up. This case demonstrates the heterogeneity in the diseases causing PAH and shows that an unexpected treatment response should alert the physician to question the original diagnosis.
我们描述了一例青少年男性病例，其患有肺动脉高压（PAH）和肺动静脉畸形（PAVM）的罕见组合，且未确诊遗传性出血性毛细血管扩张症（HHT）。该患者在标准血管扩张剂治疗中出现临床病情恶化，这使我们对最初的诊断产生怀疑。尸检评估证实存在肺静脉闭塞性疾病，而在诊断检查中未发现确凿迹象。该病例展示了导致PAH的疾病的异质性，并表明意外的治疗反应应提醒医生质疑最初的诊断。
