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.

Citation： CAI Min, REN Lijun, XIA Xinye, LIU Xiaoqin, XU Qingqing, CHENG Le, XU Xinyun, CAI Hourong, ZHANG Yingwei. Pulmonary capillary hemangiomatosis: two cases report and literature review. Chinese Journal of Respiratory and Critical Care Medicine, 2025, 24(5): 336-343. doi: 10.7507/1671-6205.202408023 Copy

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.	中華醫學會心血管病學分會, 中國康復醫學會心肺預防與康復專業委員會, 中華心血管病雜志編輯委員會. 心肺運動試驗臨床規范應用中國專家共識. 中華心血管病雜志, 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, Ja?s 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.	北京醫師協會呼吸內科專科醫師分會咯血診治專家共識編寫組. 咯血診治專家共識. 中國呼吸與危重監護雜志, 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.	中華醫學會呼吸病學分會肺栓塞與肺血管病學組, 中國醫師協會呼吸醫師分會肺栓塞與肺血管病工作委員會, 全國肺栓塞與肺血管病防治協作組, 等. 中國肺動脈高壓診斷與治療指南(2021版). 中華醫學雜志, 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, 江曉琴, 朱濤. 肺動脈高壓的治療進展. 中國呼吸與危重監護雜志, 2024, 23(4): 287-292.
19.	Montani D, Ja?s 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. 中華醫學會心血管病學分會, 中國康復醫學會心肺預防與康復專業委員會, 中華心血管病雜志編輯委員會. 心肺運動試驗臨床規范應用中國專家共識. 中華心血管病雜志, 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, Ja?s 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. 北京醫師協會呼吸內科專科醫師分會咯血診治專家共識編寫組. 咯血診治專家共識. 中國呼吸與危重監護雜志, 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. 中華醫學會呼吸病學分會肺栓塞與肺血管病學組, 中國醫師協會呼吸醫師分會肺栓塞與肺血管病工作委員會, 全國肺栓塞與肺血管病防治協作組, 等. 中國肺動脈高壓診斷與治療指南(2021版). 中華醫學雜志, 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, 江曉琴, 朱濤. 肺動脈高壓的治療進展. 中國呼吸與危重監護雜志, 2024, 23(4): 287-292.
19. Montani D, Ja?s 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

Pulmonary capillary hemangiomatosis: two cases report and literature review

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