Pulmonary capillary hemangiomatosis explained

Synonyms:Wagenvoort syndrome
Field:Pulmonology

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

Nonspecific symptoms like fatigue, coughing, chest pain, and shortness of breath are what define clinical features.[5]

Causes

At least some cases appear to be due to mutations in the eukaryotic translation initiation factor 2-alpha kinase 4 (EIF2AK4) gene.[6]

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

Diagnosis

Pulmonary artery hypertension, which manifests as enlarged pulmonary arteries, is a common imaging characteristic of pulmonary capillary hemangiomatosis. Additionally, as pulmonary artery hypertension worsens, typical CT imaging findings of right ventricular hypertrophy, leftward interventricular septum bowing, right atrial enlargement, and reflux of IV contrast into the inferior vena cava and hepatic veins can indicate secondary right heart dysfunction.[5]

Treatment

The only definitive treatment for this condition currently is lung transplantation.[5]

Imatinib may be of use.[9]

Epoprostenol does not appear to be of use.[10]

Epidemiology

The prevalence of this disease is estimated to be < 1/million.[11] The usual age at presentation is between 20 and 40 but it has been reported in the newborn.[12]

History

This condition was first described in 1978.[13]

Outcome

Median survival without treatment is 3 years.[14]

Animals

This condition has been reported in cats.[15] and dogs.[16]

References

  1. Ortiz-Bautista . Carlos . Hernández-González . Ignacio . Escribano-Subías . Pilar . Enfermedad venooclusiva pulmonar y hemangiomatosis capilar pulmonar . Medicina Clínica . Elsevier BV . 148 . 6 . 2017 . 0025-7753 . 10.1016/j.medcli.2016.11.031 . 265–270 . 28118962 . es.
  2. Masur Y, Remberger K, Hoefer M . Pulmonary capillary hemangiomatosis as a rare cause of pulmonary hypertension. . Pathol Res Pract . 1996 . 192 . 3 . 290–5; discussion 296–9 . 8739476 . 10.1016/S0344-0338(96)80232-9.
  3. El-Gabaly M, Farver CF, Budev MA, Mohammed TL . Pulmonary capillary hemangiomatosis imaging findings and literature update. . J Comput Assist Tomogr . 2007 . 31 . 4 . 608–10 . 17882042 . 10.1097/01.rct.0000284393.76073.87 . 35199069 .
  4. Lantu??joul. Sylvie. Sheppard. Mary N.. Corrin. Bryan. Burke. Margaret M.. Nicholson. Andrew G.. Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis. The American Journal of Surgical Pathology. 30. 7. 850–857. 10.1097/01.pas.0000209834.69972.e5. 16819327 . 2006. 25595167.
  5. Guzman . Samuel . Khan . Mohammad S. . Chodakiewitz . Yosef . Khan . Maham . Chodakiewitz . Michael S. . Julien . Peter . Luthringer . Daniel J. . Pulmonary capillary hemangiomatosis: a lesson learned . Autopsy and Case Reports . Editora Cubo . 9 . 3 . 2019 . e2019111 . 2236-1960 . 10.4322/acr.2019.111 . 31528628 . 6709648 .
  6. Best . D. Hunter . Sumner . Kelli L. . Smith . Benjamin P. . Damjanovich-Colmenares . Kristy . Nakayama . Ikue . Brown . Lynette M. . Ha . Youna . Paul . Eleri . Morris . Ashley . Jama . Mohamed A. . Dodson . Mark W. . Bayrak-Toydemir . Pinar . Elliott . C. Gregory . EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension . Chest . Elsevier BV . 151 . 4 . 2017 . 0012-3692 . 10.1016/j.chest.2016.11.014 . 821–828. 27884767 . 3661564 .
  7. Park . Min A. . Shin . So Youn . Kim . Young Jin . Park . Myung Jae . Lee . Seung Hyeun . Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci . Medicine . Ovid Technologies (Wolters Kluwer Health) . 96 . 47 . 2017 . 0025-7974 . 10.1097/md.0000000000008853 . e8853. 29381997 . 5708996 .
  8. Güttinger . Eva . Vrugt . Bart . Speich . Rudolf . Ulrich . Silvia . Schwitz . Fabienne . Arrigo . Mattia . Huber . Lars C. . Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome . Case Reports in Cardiology . Hindawi Limited . 2016 . 2016 . 2090-6404 . 10.1155/2016/9384126 . free . 1–5. 27069695 .
  9. Ogawa . Aiko . Miyaji . Katsumasa . Matsubara . Hiromi . Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis . Respiratory Medicine . Elsevier BV . 131 . 2017 . 0954-6111 . 10.1016/j.rmed.2017.08.032 . 215–219. 28947033 . free .
  10. S . Akagi . K . Nakamura . H . Matsubara . A . Ogawa . T . Sarashina . K . Ejiri . H . Ito . Epoprostenol Therapy for Pulmonary Arterial Hypertension . Acta Medica Okayama . Acta Med Okayama . 69 . 3 . 2015 . 129–136 . 0386-300X . 26101188 . 10.18926/AMO/53519 . 25069450 . January 28, 2024 .
  11. Szturmowicz . Monika . Kacprzak . Aneta . Szołkowska . Małgorzata . Burakowska . Barbara . Szczepulska . Ewa . Kuś . Jan . Pulmonary Veno-Occlusive Disease: Pathogenesis, Risk Factors, Clinical Features and Diagnostic Algorithm—State of the Art . Advances in Respiratory Medicine . MDPI AG . 86 . 3 . June 30, 2018 . 2543-6031 . 10.5603/arm.2018.0021 . 131–141. 29960280 . free .
  12. Hemangiomatosis capilar pulmonar congénita en un recién nacido . Archivos Argentinos de Pediatria . Sociedad Argentina de Pediatria . 115 . 1 . February 1, 2017 . 0325-0075 . 10.5546/aap.2017.e17 . 28097848 . Sposito Cavallo . S. L. . MacIas Sobrino . L. A. . Marenco Altamar . L. J. . Mejía Alquichire . A. F. . e17–e20 . free .
  13. WAGENVOORT . C. A. . BEETSTRA . A. . SPIJKER . J. . Capillary haemangiomatosis of the lungs . Histopathology . Wiley . 2 . 6 . 1978 . 0309-0167 . 10.1111/j.1365-2559.1978.tb01734.x . 401–406. 730121 . 1187730 .
  14. Ma . Lijiang . Bao . Ruijun . Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis . The Application of Clinical Genetics . Informa UK Limited . 2015 . 8 . 181–188 . 1178-704X . 10.2147/tacg.s68635 . free . 26300654 . 4536836 .
  15. Jenkins . Tiffany L. . Jennings . Ryan N. . Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat . Journal of Veterinary Diagnostic Investigation . SAGE Publications . 29 . 6 . July 28, 2017 . 1040-6387 . 10.1177/1040638717723686 . 900–903. 28754081 .
  16. Reinero . Carol R. . Jutkowitz . L. Ari . Nelson . Nathan . Masseau . Isabelle . Jennings . Samuel . Williams . Kurt . Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis . Journal of Veterinary Internal Medicine . Wiley . 33 . 1 . November 29, 2018 . 0891-6640 . 10.1111/jvim.15351 . 114–123. 30499214 . 6335444 .

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