Zheng Guixian, Tang Haijuan, Su Rui, Liang Yi, He Zhiyi, Zhang Jianquan, Deng Jingmin, Bai Jing, Zhong Xiaoning
Department of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Department of Respiratory Medicine, Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, Guangxi, China.
Medicine (Baltimore). 2020 Sep 25;99(39):e21941. doi: 10.1097/MD.0000000000021941.
Diffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown.
An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up.
Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia.
He was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months.
The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient.
DPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.
弥漫性肺淋巴管瘤病（DPL）是一种罕见疾病。大多数DPL患者表现为呼吸困难、咳嗽、咳痰和咯血。关于DPL伴血小板减少症的报道很少，其病因尚不清楚。
一名18岁男性患者出现反复咳嗽、咳痰和呼吸困难5年，在2个月的随访中发现血小板减少。
胸部计算机断层扫描显示双肺弥漫性斑片状阴影，伴有胸腔和心包积液。肺组织免疫组化染色显示淋巴管和血管内皮细胞D2-40、CD31和CD34呈阳性。随访期间血常规检查显示血小板为62×10⁹/L。骨髓活检正常。超声检查未发现肝脾肿大。最终，该患者被诊断为DPL伴血小板减少症。
对其进行了心包次全切除术、胸腔穿刺术和抗感染治疗。口服泼尼松2个月。
咳嗽和气短症状有所改善，但血小板减少症持续存在。我们对血小板减少症的病因进行了调查。全外显子组测序发现该患者肿瘤坏死因子受体超家族成员13B（TNFRSF13B）基因第3外显子存在突变。
DPL可能伴有血小板减少症和弥散性血管内凝血（DIC）。对于血小板减少但无DIC和脾肿大的患者，应进行基因突变筛查。
