Scelsi Laura, Lanzillo Giuseppe, Arbustini Eloisa, D'Armini Andrea, Greco Alessandra, Meloni Federica, Turco Annalisa, Valentini Adele, Oltrona Visconti Luigi, Ghio Stefano
Division of Cardiology Fondazione IRCCS Policlinico San Matteo Italy Pavia.
Center for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo Pavia Italy.
Pulm Circ. 2022 Jul 1;12(3):e12095. doi: 10.1002/pul2.12095. eCollection 2022 Jul.
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.
肺静脉闭塞性疾病（PVOD）是一种罕见疾病。它可能是特发性的，或特别是与结缔组织病相关，也可能在辐射暴露后发生；在遗传性PVOD中，由于EIF2AK4基因存在纯合或复合杂合致病性变异，其遗传方式为常染色体隐性遗传。我们描述了一名年轻男性的病例，其PVOD最初被误诊为慢性血栓栓塞性肺动脉高压，尽管在使用利奥西呱后病情恶化，非特异性计算机断层扫描肺血管造影结果以及父母近亲结婚提示可能为常染色体隐性疾病。鉴于该疾病的高死亡率，正确的诊断和治疗至关重要。
