Pulmonary capillary hemangiomatosis: two cases report and literature review_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

CAI Min ¹ , REN Lijun ² , XIA Xinye ² , LIU Xiaoqin ¹ , XU Qingqing ¹ , CHENG Le ³ , XU Xinyun ⁴ , CAI Hourong ¹ ,  ZHANG Yingwei ^1,2

1. Department of Pulmonary and Critical Care Medicine, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu 210008, P. R. China;
2. Department of Pulmonary and Critical Care Medicine, Nanjing Drum Tower Hospital Clinical College of Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210008, P. R. China;
3. Department of Radiology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu 210008, P. R. China;
4. Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu 210008, P. R. China;

Corresponding author：

ZHANG Yingwei, Email: yingwei16@aliyun.com

Keywords：

Pulmonary capillary hemangiomatosis; misdiagnosis; clinical diagnosis and treatment

DOI：

10.7507/1671-6205.202408023

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Objective By analyzing and summarizing the clinical characteristics of pulmonary capillary hemangiomatosis (PCH), to enhance clinical physicians’ recognition, diagnosis and treatment capabilities for PCH. Methods Clinical data of two cases of PCH, who were diagnosed in Nanjing Tower Hospital, were reported retrospectively. Simultaneously, by using “Pulmonary Capillary Hemangiomatosis” as keywords, a total of 227 relevant articles was retrieved from domestic and international databases and 113 articles of case report were analyzed. Results Two cases of PCH patients were diagnosed eventually in our hospital, which were initially misdiagnosed as other diseases. After follow-up, the first case underwent lung transplantation four months after diagnosis, and the second case had been regularly taking medication to decrease pulmonary arterial pressure. Currently, two patients were in stable condition with pulmonary artery pressure significantly reduced. In literature review, 93 patients’ medical records were included in this study. We summarized the diagnostic methods, clinical manifestations, genetic testing, function check results, imaging characteristics, histopathology, treatment and prognosis of these patients. Conclusions PCH is very rare. The extremely low incidence rate and nonspecific clinical manifestations lead to high risk of misdiagnosis and underdiagnosis. Therefore, fully understanding and grasping its clinical characteristics are crucial for reducing misdiagnosis and underdiagnosis in the future.

1.	Eltorky MA, Headley AS, Winer-Muram H, et al. Pulmonary capillary hemangiomatosis: a clinicopathologic review. Ann Thorac Surg. 1994, 57(3): 772-776.
2.	Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J, 2022, 43(38): 3618-3731.
3.	Eyries M, Montani D, Girerd B, et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet, 2014, 46(1): 65-69.
4.	Ranchoux B, Günther S, Quarck R, et al. Chemotherapy-induced pulmonary hypertension: role of alkylating agents. Am J Pathol, 2015, 185(2): 356-371.
5.	Zhang L, Visscher D, Rihal C, et al. Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease. Rheumatol Int, 2007, 27(12): 1163-1165.
6.	Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore), 2008, 87(4): 220-233.
7.	Pérez-Olivares C, Segura de la Cal T, Flox-Camacho Á, et al. The role of cardiopulmonary exercise test in identifying pulmonary veno-occlusive disease. Eur Respir J, 2021, 57(6): 2100115.
8.	Montani D, O'Callaghan DS, Savale L, et al. Pulmonary veno-occlusive disease: recent progress and current challenges. Respir Med, 2010, 104 Suppl 1: S23-32.
9.	中华医学会心血管病学分会, 中国康复医学会心肺预防与康复专业委员会, 中华心血管病杂志编辑委员会. 心肺运动试验临床规范应用中国专家共识. 中华心血管病杂志, 2022, 50(10): 973-986.
10.	Mineo G, Attinà D, Mughetti M, et al. Pulmonary veno-occlusive disease: the role of CT. Radiol Med, 2014, 119(9): 667-673.
11.	Seferian A, Helal B, Jaïs X, et al. Ventilation/perfusion lung scan in pulmonary veno-occlusive disease. Eur Respir J, 2012, 40(1): 75-83.
12.	Simonneau G, Montani D, Celermajer DS, et al. Haemodynamic definitions and updated clinical classification of pulmonary hypertension. Eur Respir J, 2019, 53(1): 1801913.
13.	北京医师协会呼吸内科专科医师分会咯血诊治专家共识编写组. 咯血诊治专家共识. 中国呼吸与危重监护杂志, 2020, 19(1): 1-11.
14.	Best DH, Sumner KL, Austin ED, et al. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest, 2014, 145(2): 231-236.
15.	中华医学会呼吸病学分会肺栓塞与肺血管病学组, 中国医师协会呼吸医师分会肺栓塞与肺血管病工作委员会, 全国肺栓塞与肺血管病防治协作组, 等. 中国肺动脉高压诊断与治疗指南(2021版). 中华医学杂志, 2021, 101(1): 11-51.
16.	Pietra GG, Edwards WD, Kay JM, et al. Histopathology of primary pulmonary hypertension. A qualitative and quantitative study of pulmonary blood vessels from 58 patients in the National Heart, Lung, and Blood Institute, Primary Pulmonary Hypertension Registry. Circulation, 1989, 80(5): 1198-1206.
17.	Masters K, Bennett S. Pulmonary veno-occlusive disease: an uncommon cause of pulmonary hypertension. BMJ Case Rep, 2013, 2013: bcr2012007752.
18.	徐婉婷, 江晓琴, 朱涛. 肺动脉高压的治疗进展. 中国呼吸与危重监护杂志, 2024, 23(4): 287-292.
19.	Montani D, Jaïs X, Price L C, et al. Cautious epoprostenol therapy is a safe bridge to lung transplantation in pulmonary veno-occlusive disease. Eur Respir J, 2009, 34(6): 1348-1356.
20.	Nakamura J, Tsujino I, Shima H, et al. Clinical and hemodynamic responses to imatinib in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: a retrospective pilot study of five cases and review of the literature. Am J Cardiovasc Drugs, 2023, 23(3): 329-338.

1. Eltorky MA, Headley AS, Winer-Muram H, et al. Pulmonary capillary hemangiomatosis: a clinicopathologic review. Ann Thorac Surg. 1994, 57(3): 772-776.
2. Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J, 2022, 43(38): 3618-3731.
3. Eyries M, Montani D, Girerd B, et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet, 2014, 46(1): 65-69.
4. Ranchoux B, Günther S, Quarck R, et al. Chemotherapy-induced pulmonary hypertension: role of alkylating agents. Am J Pathol, 2015, 185(2): 356-371.
5. Zhang L, Visscher D, Rihal C, et al. Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease. Rheumatol Int, 2007, 27(12): 1163-1165.
6. Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore), 2008, 87(4): 220-233.
7. Pérez-Olivares C, Segura de la Cal T, Flox-Camacho Á, et al. The role of cardiopulmonary exercise test in identifying pulmonary veno-occlusive disease. Eur Respir J, 2021, 57(6): 2100115.
8. Montani D, O'Callaghan DS, Savale L, et al. Pulmonary veno-occlusive disease: recent progress and current challenges. Respir Med, 2010, 104 Suppl 1: S23-32.
9. 中华医学会心血管病学分会, 中国康复医学会心肺预防与康复专业委员会, 中华心血管病杂志编辑委员会. 心肺运动试验临床规范应用中国专家共识. 中华心血管病杂志, 2022, 50(10): 973-986.
10. Mineo G, Attinà D, Mughetti M, et al. Pulmonary veno-occlusive disease: the role of CT. Radiol Med, 2014, 119(9): 667-673.
11. Seferian A, Helal B, Jaïs X, et al. Ventilation/perfusion lung scan in pulmonary veno-occlusive disease. Eur Respir J, 2012, 40(1): 75-83.
12. Simonneau G, Montani D, Celermajer DS, et al. Haemodynamic definitions and updated clinical classification of pulmonary hypertension. Eur Respir J, 2019, 53(1): 1801913.
13. 北京医师协会呼吸内科专科医师分会咯血诊治专家共识编写组. 咯血诊治专家共识. 中国呼吸与危重监护杂志, 2020, 19(1): 1-11.
14. Best DH, Sumner KL, Austin ED, et al. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest, 2014, 145(2): 231-236.
15. 中华医学会呼吸病学分会肺栓塞与肺血管病学组, 中国医师协会呼吸医师分会肺栓塞与肺血管病工作委员会, 全国肺栓塞与肺血管病防治协作组, 等. 中国肺动脉高压诊断与治疗指南(2021版). 中华医学杂志, 2021, 101(1): 11-51.
16. Pietra GG, Edwards WD, Kay JM, et al. Histopathology of primary pulmonary hypertension. A qualitative and quantitative study of pulmonary blood vessels from 58 patients in the National Heart, Lung, and Blood Institute, Primary Pulmonary Hypertension Registry. Circulation, 1989, 80(5): 1198-1206.
17. Masters K, Bennett S. Pulmonary veno-occlusive disease: an uncommon cause of pulmonary hypertension. BMJ Case Rep, 2013, 2013: bcr2012007752.
18. 徐婉婷, 江晓琴, 朱涛. 肺动脉高压的治疗进展. 中国呼吸与危重监护杂志, 2024, 23(4): 287-292.
19. Montani D, Jaïs X, Price L C, et al. Cautious epoprostenol therapy is a safe bridge to lung transplantation in pulmonary veno-occlusive disease. Eur Respir J, 2009, 34(6): 1348-1356.
20. Nakamura J, Tsujino I, Shima H, et al. Clinical and hemodynamic responses to imatinib in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: a retrospective pilot study of five cases and review of the literature. Am J Cardiovasc Drugs, 2023, 23(3): 329-338.

Chinese Journal of Respiratory and Critical Care Medicine

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