Article, see p 2022

When caring for our patients with pulmonary arterial hypertension (PAH), how many times have we wondered, could this patient really have pulmonary veno-occlusive disease/pulmonary capillary hemangiomiatosis (PVOD/PCH)? This question typically arises if there is a suggestive computed tomography scan, a low diffusing capacity of the lungs for carbon monoxide, substantial hypoxemia, or, certainly, a poor response to PAH-specific medications or development of pulmonary edema (PVOD/PCH versus unsuspected diastolic dysfunction). In fact, we recently were referred such a patient: the computed tomography scan showed septal thickening and lymphadenopathy, the diffusing capacity of the lungs for carbon monoxide was low, hypoxia requiring 8 to 10 L of supplemental oxygen was present, and marked clinical deterioration occurred after being started on PAH therapy with ambrisentan and tadalafil. Ultimately, the patient underwent lung biopsy to prove what we were certain was PVOD/PCH. To our surprise, histologically, there was no venous involvement, and she was diagnosed with idiopathic PAH (IPAH). However, based on the study by Hadinnapola and colleagues in this issue of Circulation,¹ which found significant overlap in clinical, radiological, and in 1 case even histological findings, could she still have had EIF2AK4 mutations and thus PVOD/PCH genetically?

In contrast to IPAH, which involves small pulmonary arteries, vascular remodeling in PVOD/PCH affects predominantly septal veins and venules, as well as capillaries.² PVOD and PCH, previously thought to be separate conditions, are now felt to represent variable expression of the same disease.^2,3 Initial clinical presentation is …

文章，请参阅第2022页

在照顾我们的肺动脉高压（PAH）患者时，我们想知道多少次，这个患者真的有肺静脉闭塞性疾病/肺毛细血管性血管病（PVOD / PCH）吗？如果存在建议性计算机断层扫描，肺对一氧化碳的弥散能力低，大量低氧血症，或者肯定是对PAH专用药物的反应不良或发生肺水肿（PVOD / PCH与未预料到的肺炎，通常会出现此问题）舒张功能障碍）。实际上，我们最近被转诊为这样的患者：计算机断层扫描显示中隔增厚和淋巴结肿大，肺对一氧化碳的扩散能力低，缺氧需要8至10 L补充氧气，在开始使用安布森坦和他达拉非的PAH治疗后，发生了明显的临床恶化。最终，患者接受了肺活检以证明我们确定的是PVOD / PCH。令我们惊讶的是，在组织学上，没有静脉受累，她被诊断出患有特发性PAH（IPAH）。但是，根据Hadinnapola及其同事在本期《循环》杂志上的研究，^1名在临床，影像学和1例甚至组织学检查中发现明显重叠的患者，她是否仍可能具有EIF2AK4突变，因此在遗传上也存在PVOD / PCH？

与IPAH（涉及小肺动脉）相反，PVOD / PCH中的血管重塑主要影响中隔静脉和小静脉以及毛细血管。²以前认为是分开的疾病的PVOD和PCH现在被认为代表同一疾病的可变表达。^2，3最初临床表现...