Pulmonary capillary hemangiomatosis

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Pulmonary capillary hemangiomatosis
Other names: Wagenvoort syndrome
Autosomal recessive - en.svg
Pulmonary capillary hemangiomatosis is inherited in an autosomal recessive manner.

Pulmonary capillary hemangiomatosis (PCH) is a disease affecting the blood vessels of the lungs, where abnormal capillary proliferation and venous fibrous intimal thickening result in progressive increase in vascular resistance.[1] It is a rare cause of pulmonary hypertension, and occurs predominantly in young adults.[2][3] Together with pulmonary veno-occlusive disease, PCH comprises WHO Group I' causes for pulmonary hypertension. Indeed, there is some evidence to suggest that PCH and pulmonary veno-occlusive disease are different forms of a similar disease process.[4]

Signs and symptoms

These are non specific. Typical symptoms include dyspnea, cough, chest pain and fatigue.[5]

Associated conditions

This condition has been reported in patients with Ehlers Danlos syndrome,[6] CREST syndrome[7] and scimitar syndrome.[8]


At least some cases appear to be due to mutations in the eukaryotic translation initiation factor 2-alpha kinase 4 (EIF2AK4) gene.[9]


a,b)Proliferation of capillaries in area with PCH by scanning electron microscope and in a complementary haematoxylin–eosin stain[10]

Lung biopsy is essential to make this diagnosis. This can be difficult if the pulmonary pressure is high.[citation needed]


Chest X ray may show enlargement of the heart and ill-defined patchy lesions in the lung fields.

CT chest typically shows wide spread ill-defined centrilobular nodules of ground glass opacity. This is a nonspecific finding and may be seen in a number of pulmonary diseases.

CT pulmonary angiography usually shows enlargement of the main pulmonary artery.

When measured by echocardiography or pulmonary angiography, the pulmonary arterial pressure is typically elevated.

Differential diagnosis


The only definitive treatment for this condition currently is lung transplantation.

Median survival without treatment is 3 years.[11]Imatinib may be of use.[12]Epoprostenol does not appear to be of use.[13]


The prevalence of this disease is estimated to be < 1/million.[14] The usual age at presentation is between 20 and 40 but it has been reported in the newborn.[15]


This condition was first described in 1978.[16]

Other animals

This condition has been reported in cats.[17] and dogs.[18]


  1. Ortiz-Bautista C, Hernández-González I, EscribanoSubías P. Enfermedad venooclusiva pulmonar y hemangiomatosis capilar pulmonar. Med Clin (Barc). 2017;148:265–270.
  2. Masur Y, Remberger K, Hoefer M (1996). "Pulmonary capillary hemangiomatosis as a rare cause of pulmonary hypertension". Pathol Res Pract. 192 (3): 290–5, discussion 296–9. doi:10.1016/S0344-0338(96)80232-9. PMID 8739476.
  3. El-Gabaly M, Farver CF, Budev MA, Mohammed TL (2007). "Pulmonary capillary hemangiomatosis imaging findings and literature update". J Comput Assist Tomogr. 31 (4): 608–10. doi:10.1097/01.rct.0000284393.76073.87. PMID 17882042. S2CID 35199069.
  4. Lantu??joul, Sylvie; Sheppard, Mary N.; Corrin, Bryan; Burke, Margaret M.; Nicholson, Andrew G. (2006). "Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis". The American Journal of Surgical Pathology. 30 (7): 850–857. doi:10.1097/01.pas.0000209834.69972.e5. PMID 16819327. S2CID 25595167.
  5. Chaisson NF, Dodson MW, Elliott CG (2016) Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. Clin Chest Med 37(3):523-534
  6. Park MA, Shin SY, Kim YJ, Park MJ, Lee SH (2017) Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.Medicine (Baltimore) 96(47):e8853
  7. Diao XL, Mu XD, Jin ML (2017) Pulmonary capillary hemangiomatosis associated with CREST syndrome: A challenge of diagnosis and treatment. Chin Med J (Engl) 130(21):2645-2646
  8. Güttinger E, Vrugt B, Speich R, Ulrich S, Schwitz F, Arrigo M, Huber LC (2016) Reactive pulmonary capillary hemangiomatosis and pulmonary veno-acclusive disease in a patient with repaired scimitar syndrome. Case Rep Cardiol 2016:9384126
  9. Best DH, Sumner KL, Smith BP, Damjanovich-Colmenares K, Nakayama I, Brown LM, Ha Y, Paul E, Morris A, Jama MA, Dodson MW, Bayrak-Toydemir P, Elliott CG (2017) EIF2AK4 Mutations in patients diagnosed With pulmonary arterial hypertension. Chest 151(4):821-828
  10. Weatherald, Jason; Dorfmüller, Peter; Perros, Frédéric; Ghigna, Maria-Rosa; Girerd, Barbara; Humbert, Marc; Montani, David (30 June 2020). "Pulmonary capillary haemangiomatosis: a distinct entity?". European Respiratory Review. 29 (156). doi:10.1183/16000617.0168-2019. ISSN 0905-9180.
  11. Ma L, Bao R (2015) Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis. Appl Clin Genet 8:181-8
  12. Ogawa A, Miyaji K, Matsubara H (2017) Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. Respir Med 131:215-219
  13. Akagi S, Nakamura K, Matsubara H, Ogawa A, Sarashina T, Ejiri K, Ito H (2015) Epoprostenol therapy for pulmonary arterial hypertension. Acta Med Okayama 69(3):129-136
  14. Szturmowicz M, Kacprzak A, Szołkowska M, Burakowska B, Szczepulska E, Kuś J (2018) Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. Adv Respir Med 86(3)
  15. Sposito Cavallo SL, Macias Sobrino LA, Marenco Altamar LJ, Mejía Alquichire AF (2017) Congenital pulmonary capillary hemangiomatosis in a newborn. Arch Argent Pediatr 115(1):e17-e20
  16. Wagenvoort CA, Beetstra A, Spijker J (1978) Capillary haemangiomatosis of the lungs. Histopathology 2:401–6
  17. Jenkins TL, Jennings RN (2017) Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat. J Vet Diagn Invest 29(6):900-903
  18. Reinero CR, Jutkowitz LA, Nelson N, Masseau I, Jennings S, Williams K (2018) Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. J Vet Intern Med

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