PDF(Pubmed)
Abstract：
Pulmonary veno-occlusive disease (PVOD) is a rare disease. It may be idiopathic or associated, in particular, with connective tissue disease, or it may develop after radiation exposure; in heritable forms of PVOD, the inheritance is autosomal recessive due to the presence of homozygous or compound heterozygous pathogenic variants in the EIF2AK4 gene. We describe the case of a young man whose PVOD was initially misdiagnosed as chronic thromboembolic pulmonary hypertension despite worsening after riociguat, nonspecific computed tomography pulmonary angiogram findings, and parental consanguinity could suggest an autosomal recessive disease. The correct diagnosis and the correct treatment are crucial given the high mortality rate of this disease.
摘要：
肺静脉闭塞性疾病（PVOD）是一种罕见的疾病。它可能是特发性的或相关的，特别是,患有结缔组织病，或者它可能在辐射暴露后发展；在PVOD的可遗传形式中，由于EIF2AK4基因中存在纯合或复合杂合致病变体，因此遗传是常染色体隐性遗传。我们描述了一个年轻人的病例，其PVOD最初被误诊为慢性血栓栓塞性肺动脉高压，尽管在利奥西加后恶化，非特异性计算机断层扫描肺血管造影结果，父母血缘关系可能提示常染色体隐性疾病。鉴于该疾病的高死亡率，正确的诊断和正确的治疗至关重要。
