Pulmonary capillary hemangiomatosis

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Pulmonary capillary hemangiomatosis
Other namesWagenvoort syndrome
Pulmonary capillary hemangiomatosis (4348914308).jpg
Alveolar capillary proliferation as well as proliferation of larger blood vessels, probably venules.
Specialty 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]

Contents

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 (2017). "Enfermedad venooclusiva pulmonar y hemangiomatosis capilar pulmonar". Medicina Clínica (in Spanish). 148 (6). Elsevier BV: 265–270. doi:10.1016/j.medcli.2016.11.031. ISSN   0025-7753. PMID   28118962.
  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. 1 2 3 Guzman, Samuel; Khan, Mohammad S.; Chodakiewitz, Yosef; Khan, Maham; Chodakiewitz, Michael S.; Julien, Peter; Luthringer, Daniel J. (2019). "Pulmonary capillary hemangiomatosis: a lesson learned". Autopsy and Case Reports. 9 (3). Editora Cubo: e2019111. doi:10.4322/acr.2019.111. ISSN   2236-1960. PMC   6709648 . PMID   31528628.
  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 (2017). "EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension". Chest. 151 (4). Elsevier BV: 821–828. doi:10.1016/j.chest.2016.11.014. ISSN   0012-3692. PMID   27884767. S2CID   3661564.
  7. ↑ Park, Min A.; Shin, So Youn; Kim, Young Jin; Park, Myung Jae; Lee, Seung Hyeun (2017). "Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci". Medicine. 96 (47). Ovid Technologies (Wolters Kluwer Health): e8853. doi:10.1097/md.0000000000008853. ISSN   0025-7974. PMC   5708996 . PMID   29381997.
  8. ↑ Güttinger, Eva; Vrugt, Bart; Speich, Rudolf; Ulrich, Silvia; Schwitz, Fabienne; Arrigo, Mattia; Huber, Lars C. (2016). "Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome". Case Reports in Cardiology. 2016. Hindawi Limited: 1–5. doi: 10.1155/2016/9384126 . ISSN   2090-6404. PMID   27069695.
  9. ↑ Ogawa, Aiko; Miyaji, Katsumasa; Matsubara, Hiromi (2017). "Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis". Respiratory Medicine. 131. Elsevier BV: 215–219. doi: 10.1016/j.rmed.2017.08.032 . ISSN   0954-6111. PMID   28947033.
  10. ↑ S, Akagi; K, Nakamura; H, Matsubara; A, Ogawa; T, Sarashina; K, Ejiri; H, Ito (2015). "Epoprostenol Therapy for Pulmonary Arterial Hypertension". Acta Medica Okayama. 69 (3). Acta Med Okayama: 129–136. doi:10.18926/AMO/53519. ISSN   0386-300X. PMID   26101188. S2CID   25069450.
  11. ↑ Szturmowicz, Monika; Kacprzak, Aneta; Szołkowska, Małgorzata; Burakowska, Barbara; Szczepulska, Ewa; Kuś, Jan (June 30, 2018). "Pulmonary Veno-Occlusive Disease: Pathogenesis, Risk Factors, Clinical Features and Diagnostic Algorithm—State of the Art". Advances in Respiratory Medicine. 86 (3). MDPI AG: 131–141. doi: 10.5603/arm.2018.0021 . ISSN   2543-6031. PMID   29960280.
  12. ↑ Sposito Cavallo, S. L.; MacIas Sobrino, L. A.; Marenco Altamar, L. J.; Mejía Alquichire, A. F. (February 1, 2017). "Hemangiomatosis capilar pulmonar congénita en un recién nacido". Archivos Argentinos de Pediatria. 115 (1). Sociedad Argentina de Pediatria: e17 –e20. doi: 10.5546/aap.2017.e17 . ISSN   0325-0075. PMID   28097848.
  13. ↑ WAGENVOORT, C. A.; BEETSTRA, A.; SPIJKER, J. (1978). "Capillary haemangiomatosis of the lungs". Histopathology. 2 (6). Wiley: 401–406. doi:10.1111/j.1365-2559.1978.tb01734.x. ISSN   0309-0167. PMID   730121. S2CID   1187730.
  14. ↑ Ma, Lijiang; Bao, Ruijun (2015). "Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis". The Application of Clinical Genetics. 8. Informa UK Limited: 181–188. doi: 10.2147/tacg.s68635 . ISSN   1178-704X. PMC   4536836 . PMID   26300654.
  15. ↑ Jenkins, Tiffany L.; Jennings, Ryan N. (July 28, 2017). "Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat". Journal of Veterinary Diagnostic Investigation. 29 (6). SAGE Publications: 900–903. doi:10.1177/1040638717723686. ISSN   1040-6387. PMID   28754081.
  16. ↑ Reinero, Carol R.; Jutkowitz, L. Ari; Nelson, Nathan; Masseau, Isabelle; Jennings, Samuel; Williams, Kurt (November 29, 2018). "Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis". Journal of Veterinary Internal Medicine. 33 (1). Wiley: 114–123. doi:10.1111/jvim.15351. ISSN   0891-6640. PMC   6335444 . PMID   30499214.
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