The State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou 510120, China.
The State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou 510120, China.
Pathol Res Pract. 2020 Sep;216(9):153100. doi: 10.1016/j.prp.2020.153100. Epub 2020 Jul 4.
Pulmonary capillary hemangiomatosis (PCH) is a very rare and refractory pulmonary vascular disease that causes pulmonary hypertension. Differentiation of PCH from idiopathic pulmonary arterial hypertension (iPAH) is essential because treatment and prognosis can vary greatly between these two diseases.
A 20-year-old female and a 33-year-old male both presented with progressive exertional dyspnea and cough. High-resolution computed tomography (HRCT) showed bilateral, diffuse, ill-defined centrilobular nodules of ground-glass opacity, without subpleural thickened septal lines or mediastinal lymphadenopathy. Both cases showed clinical and imaging features characteristic of pulmonary veno-occlusive disease (PVOD) or PCH. The entire EIF2AK4 coding sequence was detected with Sanger sequencing, and no pathogenic EIF2AK4 mutations were identified in either case. Video-assisted thoracoscopic surgery (VATS) was safely performed in both cases, and histopathological examinations of biopsies showed that both patients had PCH.
Two patients presented with clinical and imaging characteristics suspicious for PVOD/PCH. Despite having no pathogenic EIF2AK4 mutations, both were diagnosed with PCH by VATS lung biopsies. The diagnostic distinction of PCH is important to prompt timely evaluations of patients who may need lung transplantations.
肺毛细血管血管瘤病（PCH）是一种非常罕见且难治的肺血管疾病，可导致肺动脉高压。将 PCH 与特发性肺动脉高压（iPAH）区分开来至关重要，因为这两种疾病的治疗和预后可能有很大差异。
一名 20 岁女性和一名 33 岁男性均因进行性劳力性呼吸困难和咳嗽就诊。高分辨率计算机断层扫描（HRCT）显示双侧弥漫性、边界不清的小叶中心性磨玻璃密度结节，无胸膜下增厚的间隔线或纵隔淋巴结肿大。这两例均表现出符合肺静脉闭塞性疾病（PVOD）或 PCH 的临床和影像学特征。对整个 EIF2AK4 编码序列进行 Sanger 测序，在这两例中均未发现致病性 EIF2AK4 突变。在这两例中均安全地进行了电视辅助胸腔镜手术（VATS），活检的组织病理学检查显示两例患者均患有 PCH。
两名患者均表现出疑似 PVOD/PCH 的临床和影像学特征。尽管没有致病性 EIF2AK4 突变，但通过 VATS 肺活检均诊断为 PCH。对 PCH 的诊断区分很重要，以便及时评估可能需要肺移植的患者。
