Log in

Maladie de Rendu-Osler révélée par l’atteinte hépatique

Osler-Rendu-Weber disease: disease involving the liver

  • Cas Clinique / Case Report
  • Published:
Journal Africain d'Hépato-Gastroentérologie

Résumé

Nous rapportons l’observation d’un patient de 58 ans ayant une maladie de Rendu-Osler (MRO) avec atteinte hépatique asymptomatique révélée par une hépatosplénomégalie. Nous nous proposons de revoir les caractéristiques épidémiologiques, cliniques, diagnostiques, évolutives et thérapeutiques des malformations vasculaires hépatiques au cours de la MRO.

Abstract

We report the case of a 58-year-old patient with hepatic vascular malformations, revealing Osler-Rendu-Weber disease. We reviewed the main features of hepatic vascular malformations of Rendu-Osler disease, including epidemiology, diagnosis, outcome, and therapy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Références

  1. Plauchu H, de Chadarevian JP, Bideau A, Robert JM (1989) Agerelated clinical profile of hereditary hemorrhagic telangiectasia in an epiemiologically recruited population. Am J Med Genet 32:291–7

    Article  CAS  PubMed  Google Scholar 

  2. Bideau A, Planchu H, Robert JM (1989) Étude épidémiologique de la maladie de Rendu-Osler en France: répartition géographique et prévalence. Population 1:9–28

    Article  Google Scholar 

  3. McAllister KA, Grogg KM, Johnson DW, et al (1994) Endoglin, a TGF-beta binding protein of endothelial cells, ie the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8:345–51

    Article  CAS  PubMed  Google Scholar 

  4. Lesca G, Plauchu H, Coulet F, et al (2004) Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary kemorrhagic telangiectasia in France. Hum Mutat 23:289–99

    Article  CAS  PubMed  Google Scholar 

  5. Gallione CJ, Repetto GM, Legius E, et al (2004) A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4(SMAD4). Lancet 363:852–9

    Article  CAS  PubMed  Google Scholar 

  6. Fernadez-LA, Sanz-Rodriguez F, Blanco FJ, et al (2006) Hereditary haemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-β signalling pathway. Clin Med Res 4:66–78

    Article  Google Scholar 

  7. Shovlin CL, Guttmacher AE, Buscarini E, et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu- Osler-Weber syndrome). Am J Med Genet 91:66–7

    Article  CAS  PubMed  Google Scholar 

  8. Buscarini E, Danesino C, Olivieri C, et al (2004) Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia: results of extensive screening. Ulraschall Med 25:348–55

    Article  CAS  Google Scholar 

  9. Ianora AA, Memeo M, Sabbà C, et al (2004) Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement. Radiology 230:350–9

    Article  Google Scholar 

  10. Buscarini E, Plauchu H, Garcia Tsao G, et al (2006). Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int 26:1040–6

    Article  PubMed  Google Scholar 

  11. Oliveiri C, Mira E, Delu G, et al (2002) Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 39:e39

    Article  Google Scholar 

  12. Martini GA (1978) The liver in hereditary hemorrhagic telangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal. Gut 19:531–7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Buscarini E, Buscarini L, Givardi G, et al (1994) Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. Am J Roentgenol 163:1105–10

    Article  CAS  Google Scholar 

  14. Buscarini E, Buscarini L, Danesino C, et al (1997) Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: doppler sonographic screening in a large family. J Hepatol 26:111–8

    Article  CAS  PubMed  Google Scholar 

  15. Buscarini L, Danesino C, Olivieiri C, et al (2005) Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler disease. Dig Liv Dis 37:635–45

    Article  CAS  Google Scholar 

  16. Garcia-Tsao G, Sanyal AJ, Grace ND, Carey W (2007) The Practice Guidelines Committee of the American Association for the Study of Liver Diseases, the Practice Parameters Committee of the American College of Gastroenterology. Prevention and management of gastroesophagealvarices and variceal hemorrhage in cirrhosis. Hepatology 46:922–37

    CAS  PubMed  Google Scholar 

  17. Mitchell A, Adams LA, Macquillan G, et al (2008) Bevacizumab reverses need for liver transplatation in hereditary hemorrhagic telangiectasia. Liver Transpl 14:210–3

    Article  PubMed  Google Scholar 

  18. Buscarini E, Manfredi G, Zambelli A (2008) Bevacizumab to treat complicated liver vascular malformations in hereditary hemorrhagic telangiectasia: a word of caution. Liver Transplant 14:1685–6

    Article  Google Scholar 

  19. Lerut J, Orlando G, Adam R, al (2006) Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European Liver transplant registry. Ann Surg 244:854–62

    Article  PubMed  PubMed Central  Google Scholar 

  20. Buscarini E, Leandro G, Conte D, al (2011) Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic telangiectasia. Dig Dis Sci 56:2166–7888

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to T. Lamsiah.

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lamsiah, T., El Hamdi, F.Z., Belaabas, S. et al. Maladie de Rendu-Osler révélée par l’atteinte hépatique. J Afr Hepato Gastroenterol 10, 229–232 (2016). https://doi.org/10.1007/s12157-016-0684-2

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12157-016-0684-2

Mots clés

Keywords

Navigation