Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family

Journal of Hepatology

Volumn 26, Issue 1, 1997, Pages 111-118

  Buscarini, Elisabetta ^a   Buscarini, Luigi ^a   Danesino, Cesare ^a   Piantanida, Mauro ^a   Civardi, Giuseppe ^a   Quaretti, Pietro ^a   Rossi, Sandro ^a   Di Stasi, Michele ^a   Silva, Matteo ^a  

^a NONE

Author keywords

cholestasis; Doppler sonography; hereditary hemorrhagic telangiectasia; liver vascular malformation; screening

Indexed keywords

ADULT; ARTICLE; CHOLESTASIS; DOPPLER ECHOGRAPHY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCREENING; TELANGIECTASIA;

EID: 0031015777     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(97)80017-7     Document Type: Article

References (35)

1. Bideau A, Plauchu H, Brunet G, Robert JM. Etude épidémiologique de la maladie de Rendu Osler en France: répartition géographique et prévalence. Population. 1:1989;9-28.
2. McKusick VA. Telangiectasia, hereditary hemorrhagic, or Rendu, Osler and Weber. 11th edn. Mendelian Inheritance in Man; Catalog of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. 1994;1422 The Johns Hopkins University Press, Baltimore.
3. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, Jackson CE, Jannuzzi M, Collins FS, Boehnke M, Porteous ME, Guttmacher AE, Marchuk DA. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet. 6:1994;197-204.
4. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 32:1989;291-297.
5. Reilly PJ, Nostrant TT. Clinical manifestation of hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 79:1984;363-367.
6. Martini GA. The liver in hereditary haemorrhagic teleangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal. Gut. 19:1978;531-537.
7. Bernard G, Mion F, Henry L, Plauchu H, Paliard P. Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology. 105:1993;482-487.
8. Cloogman H, Di Capo RD. Hereditary hemorrhagic telangiectasia: sonographic findings in the liver. Radiology. 150:1984;521-522.
9. Goes E, Van Tussenbroeck F, Cottenie F, Hulstaert J, Osteaux M. Osler's disease diagnosed by ultrasound. J Clin Ultrasound. 15:1987;129-131.
10. Vilgrain V, Menu Y, Nahum H. Doppler sonography in Osler-Weber-Rendu disease. AJR. 157:1991;413-414.
11. Pompili M, Rapaccini GL, Marzano MA, Mastromatteo AM, Aliotta A, Cedrone A, Grattagliano A. Doppler ultrasound findings in Osler-Weber-Rendu disease with hepatic involvement: a case report. Ital J Gastroenterol. 26:1994;83-85.
12. Ralls PW, Johnson MB, Radin RD, Lee KP, Boswell WD. Hereditary hemorrhagic telangiectasia: findings in the liver with color Doppler sonography. AJR. 159:1992;59-61.
13. Hutin JF, Grenier N, Schmitt N, Pledran B, Elie G, Philippe JC, Delmas J, Broussin J. Angioscanner de l'angiomatose hepatique dans la maladie de Rendu-Osler. A propos de trois cas. J Radiol. 70:1989;621-627.
14. Varma DGK, Schoenberger SC, Kumra A, Agrawal N, Robinson AE. Osler-Weber-Rendu disease: MR findings in the liver. J Comput Assist Tomog. 13:1989;134-135.
15. Bourgeois N, Delcour C, Deviere J, Francois A, Lambert M, Cremer M, Rickaert F, Lecocq E. Osler-Weber-Rendu disease associated with hepatic involvement and high output heart failure. J Clin Gastroent. 12:1990;236-237.
16. Nikolopoulos N, Xynos E, Vassilakis JS. Familial occurrence of hyperdynamic circulation status due to intrahepatic fistulae in hereditary hemorrhagic telangiectasia. Hepatogastroenterol. 35:1988;167-168.
17. Bauer T, Britton P, Lomas D, Wight DGD, Friend PJ, Alexander GJM. Liver transplantation for hepatic arteriovenous malformation in hereditary hemorrhagic telangiectasia. J Hepatol. 22:1995;586-590.
18. Buscarini E, Buscarini L, Civardi G, Arruzzoli S, Bossalini G, Piantanida M. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. AJR. 163:1994;1105-1110.
19. Ott J. Revised Edition. Analysis of Human Genetic Linkage. 1991;217-229 The Johns Hopkins University Press, Baltimore.
20. Bombelli L, Genitoni V, Biasi S, Materazzo C, Bonfanti G. Liver hemodynamic flow balance by image-directed Doppler ultrasound evaluation in normal subjects. J Clin Ultrasound. 19:1991;257-262.
21. Peery W. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med. 82:1987;989-997.
22. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Pericak-Vance MA, Heutink P, Oostra BA, Haitjema T, Westerman CJJ, Porteous ME, Guttmacher AE, Letarte M, Marchuk DA. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary hemorrhagic telangiectasia type 1. Nature Genet. 8:1994;345-351.
23. Shovlin CL, Hughes JMB, Tuddenham EGD, Temperley I, Perembelon YFN, Scott J, Seidman CE, Seidman JG. A gene for hereditary hemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet. 6:1994;205-209.
24. McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Helmbold EA, Markel DS, Jackson CE, Guttmacher AE, Pericak-Vance MA, Marchuk DA. Genetic heterogeneity in hereditary hemorrhagic telangiectasia: Possible correlation with clinical phenotype. J Med Genet. 31:1994;927-932.
25. Heutink P, Haitjema T, Breedveld GJ, Janssen B, Sandkuijl LA, Bontekoe CJM, Westerman CJJ, Oostra BA. Linkage of hereditary hemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet. 31:1994;933-936.
26. Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet. 4:1995;945-949.
27. Piantanida M, Buscarini E, Dellavecchia C, Minelli A, Rossi A, Buscarini L, Danesino C. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet. 33:1996;441-443.
28. Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet. 31:1994;925-926.
29. Buscarini E, Garbagnati F, Lanocita R, Gaiani S, Quaretti P, Rossi S, Civardi G, Buscarini L, Damascelli B. Repeated transarterial embolization of liver arteriovenous malformations in a case of hereditary hemorrhagic telangiectasia. J Intervent Radiol. 10:1995;103-106.
30. Porteous MEM, Burn J. Proctor SJ tiHereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet. 29:1992;527-530.
31. Whiting JH, Morton KA, Datz FL, Patch GG, Miller FJ. Embolization of hepatic arteriovenous malformations using radiolabeled and nonradiolabeled polyvinyl alcohol sponge in a patient with hereditary hemorrhagic telangiectasia: case report. J Nucl Med. 33:1992;260-262.
32. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Derm. 95:1990;422-427.
33. Benhamou JP. Maladie de Rendu-Osler ou telangiectasie hereditaire hemorragique. Benhamou JP, Erlinger S. Maladies du foie et des voies biliaires. 1990;124 Flammarion Medecine Sciences, Paris.
34. Wing VW, Laing FC, Jeffrey RB, Guyon J. Sonographic differentiation of enlarged hepatic arteries from dilated intrahepatic bile ducts. AJR. 145:1985;57-61.
35. Danchin N, Thisse JY, Neimann JL, Faivre G. Osler-Weber-Rendu disease with multiple intrahepatic arteriovenous fistulas. Am Heart J. 105:1983;856-859.