Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management

Saudi Medical Journal

Volumn 28, Issue 1, 2007, Pages 11-21

  Stuhrmann, Manfred ^a   El Harith, El Harith A ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; ESTROGEN; ETHINYLESTRADIOL; IRON; NORETHISTERONE; PROGESTERONE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

BLOOD TRANSFUSION; BRAIN ARTERIOVENOUS MALFORMATION; CEREBROVASCULAR MALFORMATION; CHROMOSOME 12Q; CHROMOSOME 5; CHROMOSOME 9Q; CLINICAL FEATURE; CONTRAST ECHOCARDIOGRAPHY; EPISTAXIS; GASTROINTESTINAL HEMORRHAGE; GENE IDENTIFICATION; GENETIC HETEROGENEITY; HEART FAILURE; HOMOZYGOSITY; HUMAN; IRON DEFICIENCY ANEMIA; LASER SURGERY; LIVER FAILURE; LIVER TRANSPLANTATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHYSICAL EXAMINATION; PORTAL HYPERTENSION; PREVALENCE; PULMONARY ARTERIOVENOUS FISTULA; RENDU OSLER WEBER DISEASE; REVIEW; TELANGIECTASIA; GENETICS;

HUMANS; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 34249796129     PISSN: 03795284     EISSN: 16583175     Source Type: Journal    
DOI: None     Document Type: Review

References (118)

1. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: A population-based study of prevalence and mortality in Danish patients. J Intern Med 1999; 245: 31-39.
2. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54: 714-729.
3. Haitjema T, Disch F, Overtoom TTC, Westermarm CJJ, Lammers JWJ. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995; 99: 519-524.
4. Kjeldsen AD, Oxhoj H, Andersen PE, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999; 116: 432-429.
5. Piantanida M, Buscarini E, Dellavecchia C, Minelli A, Rossi A, Danesino C. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 1996; 33: 441-443.
6. McDonald J, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet 2000; 93: 320-327.
7. Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK, et al. MRI of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations. Am J Neuroradiol 1998; 19: 477-484.
8. 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 1989; 32: 291-297.
9. Porteous MEM, Burn J, Proctor SJ, Hereditary haemorrhagic telangiectasia: A clinical analysis. J Med Genet 1992; 29: 527-530.
10. Shovlin CL, Hughes JMB, Tuddenham EGD, Temperley I, Perembelon YFN, Scott J, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994; 6: 205-209.
11. Rendu HJ. Epistaxis repesées chez un sujet porteur de petits angiomes cutanés et muqueux. Gaz Hop 1896; 3: 731-733.
12. Osler W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Bull Johns Hopkins Hosp 1901; 12: 333-337.
13. Weber FP. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages. Lancet 1907; 2: 160-162
14. Hanes FM. Multiple hereditary telangiectases causing hemorrhage (hereditary hemorrhagic telangiectasis). Bull John Hopkins Hospital 1909; 20: 63-73.
15. Guttmacher AE, Callahan JR. Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia? Am J Med Genet 2000; 91: 62-65.
16. Gar1and HG, Arming ST. Hereditary hemorrhagic telangiectasia, a genetic and bibliographical study. Br J Dermatol 1950; 62: 289-310.
17. Heffner RR Jr., Solitare GB. Hereditary haemorrhagic telangiectasia: neuropathological observations. J Neurol Neurosurg Psychiatry 1969; 32: 604-608.
18. Muller JY, Michailov T, Izrael V, Bernard J. Maladie de Rendu-Osler dans une grande famille saharienne. Nouv Presse Med 1978; 7: 1723-1725.
19. Chu KM, Lai EC, Ng IO. Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. Am J Gastoenterol 1993; 88: 1116-1119.
20. Yamaguchi II, Azuma H, Shigekiyo T, Inoue H, Salto S. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb Haemost 1997; 77: 243-247.
21. El-Harith EA, Al-Kharasani M, Ahmed MA, Stuhrmann M. Hereditary hemorrhagic telangiectasia: A case report. Saudi Med J 1999; 20: 797-799.
22. Westermann CJJ, Rosina AF, de Vries V, de Coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasis in the Afro-Carribean population of the Netherlands Antilles: A family screening. Am J Med Genet 2003; 116A: 324-328.
23. Plauchu H, Bideau A. Epidemiologie et constitution d'un register de population a propos d'une concentration geographieque d'une maladie hereditairerare. Population 1984; 4: 765-786.
24. Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJJ, et al. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: Evidence for a founder effect. Hum Genet 2000; 107: 40-44.
25. Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community. Am J Med Genet 1994; 52: 252-253.
26. Cooke DA. Renal arteriovenous malformation demonstrated angiographically in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). J R Soc Med 1986; 79: 744-746.
27. Brant AM, Schachat AP, White RI. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Am J Ophthalmol 1989; 107: 642-646.
28. Davis DG, Smith JL. Retinal involvement in hereditary hemorrhagic telangiectasia. Arch Ophthalmol 1971; 85: 618-623.
29. Hieshima GB, Cahan LD, Berlin MS, Pribram HW. Calvarial, orbital and dural vascular anomalies in hereditary hemorrhagic telangiectasia. Surg Neurol 1977; 8: 263-267.
30. Roman G, Fisher M, Perl DP, Poser CM. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978; 4: 130-144.
31. Willinsky RA, Lasjaunias P, Terbrugge K, Burrows P. Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 1990; 32: 207-210.
32. Secil M, Goktay AY, Dicle O, Pirnar T. Splenic vascular malformations and portal hypertension in hereditary hemorrhagic telangiectasia: sonographic findings. J Clin Ultrasound 2001; 29: 56-59.
33. Braverman IM, Keh A, Jacobson BS. Ultra structure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990; 95: 422-427.
34. Heutink P, Haitjema T, Breedveld GJ, Janssen B, Sandkuijl LA, Bontekoe JM, et al. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994; 31: 933-936.
35. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.Nat Genet 1994; 6: 197-204.
36. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin M.A., Jackson CE, et al. Endoglin, a TGF-binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345-351.
37. Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995; 5: 21-28.
38. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Molec Genet 1995; 4: 945-949.
39. Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, et al. The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997; 61: 60-67.
40. Cole SG, Begbie ME, Wallace GMF, Shovlin CL. A new locus for hereditary hemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005; 42: 577-582.
41. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363: 852-859.
42. McDonald MT, Papenberg K, Ghosh S, Glatfelter A, Biesecker B, Helmbold E, et al. Genetic linkage of hereditary hemorrhagic telangiectasia to markers on 9q. (Abstract) Am J Hum Genet 1993; 53 Suppl A: 140.
43. McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Heimbold EA, Markel DS, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: Possible correlation with clinical phenotype. J Med Genet 1994; 31: 927-932.
44. Shovlin CL. Molecular defects in rare bleeding disorders: Hereditary haemorrhagic telangiectasia. Thromb Haemost 1997; 78: 145-150.
45. Gougous A, Letarte M. Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line. J Immunol 1988; 141: 1925-1933.
46. Gougous A, Letarte M. Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J Biol Chem 1990; 265: 8361-8364.
47. Lux A, Gallione CJ, Marchuk DA. Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms. Hum Molec Genet 2000; 9: 745-755.
48. McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, et al. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Molec Genet 1995; 4: 1983-1985.
49. Gougous A, Letarte M. Biochemical characterization of the 44G4 antigen from the hoon pre-B leukemic cell line. J Immunol 1988; 141: 1934-1940.
50. Gougous A, St Jacques S, Greaves A, O'Connell PJ, d'Apice AJ, Buhring HJ, et al. Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts. Int Immunol 1992; 4: 83-92.
51. St. Jacques S, Cymerman U, Pece N, Letarte M. Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-β binding protein of endothelial and stromal cells. Endocrinology 1994; 134: 2645-2657.
52. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 196; 13: 189-195.
53. Attisano L, Carcamo J, Ventura F, Weis FMB, Massagu J, Wrana JL. Identification of human activin and TGF-β type I receptors that form heteromeric kinase complexes with type II receptors. Cell 1993; 75: 671-680.
54. ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, et al. Activin receptor-like kinases: A novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene 1993; 8: 2879-2887.
55. Wallace GMF, Shovlin CL. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK- 1. Thorax 2000; 55: 685-690.
56. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, et al. Hereditary haemorrhagic telangiectasia: A questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 2003; 40: 585-590.
57. Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, et al. Genotype-phenotype relationship in hereditary hemorrhagic telangiectasia. J Med Genet 2005; 43:371-377. pre-published September 9.
58. Berg JN, Guttmacher AE, Marchuk DA, Porteous MEM. Clinical heterogeneity in hereditary hemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996; 33: 256-257.
59. Kjeldsen AD, Moller TR, Brusgaard K, Vase P, Andersen PE. Clinical symptoms according to genotype amongst patients with hereditary hemorrhagic telangiectasia. J Intern Med 2005; 258: 349-355.
60. Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet 2003; 40: 865-871.
61. Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001; 345: 325-334.
62. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet 2006; 43: 97-110.
63. Azuma H, Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest 2000; 47: 81-90.
64. Blobe GC, Schiemann WP, Lodish HF. Role of transforming growth factor-β in human disease. N Eng J Med 2000; 342: 350-1358.
65. Lux A, Attisano L, Marchuk DA. Assignment of transforming growth factor beta 1 and beta 3 and a third new ligand to the type I receptor ALK-l. J Biol Chem 1999; 274: 9984-9992.
66. Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK, et al. Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci USA 2000; 97: 2626-2631.
67. Pece-Barbara N, Vera S, Kathirkamathamby K, Liebner S, Di Guglielmo GM, Dejana E, et al. Endoglin null endothelial cells proliferate faster and are more responsive to transforming factor beta 1 with higher affinity receptors and an activated Alk1 pathway. J Biol Chem 2005; 280: 27800-27808.
68. Letarte M, McDonald ML, Chenggang L, Kathirkamathamby K, Vera S, Pece-Barbara N, Kumar S. Reduced endothelial secretion and plasma levels of transforming growth factor-b in patients with hereditary hemorrhagic telangiectasia type 1. Cardiovas Res 2005; 68: 155-164.
69. Gu Y, Jin P, Zhang L, Zhao X, Gao X, Ning Y, et al. Functional analysis of mutations in the kinase domain of the TGF-β receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia. Blood 2006; 107: 1951-1954.
70. Lebrin F, Deckers M, Bertolino P, ten Dijke P. TGF-β receptor function in the endothelium. Cardiovas Res 2005; 65: 599-608.
71. Arthur HM, Ure J, Smith AJH, Renforth G, Wilson DI, Torsney E, et al. Endoglin, an ancillary TGF-β receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Dev Biol 2000; 217: 42-53.
72. Li DY, Sorensen LK, Brooke BS, Urness LD, Davis EC, Taylor DG, et al. Defective angiogenesis in mice lacking endoglin. Science 1999; 284: 1534-1537.
73. Bourdeau A, Dumont DJ, Letarte M. A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 1999; 104: 1343-1351.
74. Dickson MC, Martin JS, Cousin FM, Kulkami AB, Karisson S, Akhurst RJ. Defective haematopoiesis and vasculogenesis in transforming growth factor-b1 knockout mice. Development 1995; 121: 1845-1854.
75. Oshima M, Oshima H, Taketo MM. TGF-β receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis. Dev Biol 1996; 179: 297-302.
76. Chang H, Huylebroeck D, Verschueren K, Guo Q, Matzuk MM, Zwijsen A. Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects. Development 1999; 126: 1631-1642.
77. Yang X, Castilla LH, Xu X, Li C, Gotay J, Weinstein M, et al. Angiogenesis defects and mesenchymal apoptosis in mice lacking 5MAD5. Development 1999; 126: 1571-1580.
78. Sanford LP, Ormsby I, Gittenberger de Groot A.C., Sariola H, Friedman R, Boivin GP, et al. TGF-β2 knockout mice have multiple developmental defects that are non-overlapping with other TGF-β knockout phenotypes. Development 1997; 124: 2659-2670.
79. Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, et al. Abnormal lung development and cleft palate in mice lacking TGF-β3 indicates defects of epithelial-mesenchymal interaction. Nat Genet 1995; 11: 415-421.
80. Urness LD, Sorensen LK, Li DY. Arteriovenous malformations in mice lacking activin receptor-like kinase-l. Nat Genet 2000; 26: 328-331.
81. Aassar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope 1991; 101: 977-980.
82. Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber Rendu disease). Am J Med 1987; 82: 989-997.
83. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333: 918-924.
84. White RI Jr., Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, et al. Pulmonary atriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology 1988; 169: 663-669.
85. White RI Jr. Pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: Embolotherapy using balloons and coils. Arch Intern Med 1996; 156: 2627-2628
86. Vase P, HoIm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985; 218: 105-109.
87. Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994; 106: 1387-1390.
88. Piepgras U, Sielecki S. Die Lungenbeteiligung bei Morbus Osler und ihre zerebralen Komplikationen. Radiologe 1986; 26: 27-30.
89. Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986; 91: 1079-1083.
90. Halpern M, Turner AF, Citron BP. Hereditary hemorrhagic telangiectasia. An angiographic study of abdominal visceral angiodysplasias associated with gastrointestinal haemorrhage. Radiology 1968; 90: 1143-1149.
91. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000; 343: 931-936.
92. Reilly PJ, Nostrant TT. Clinical manifestations of hereditary hemorrhagic telangiectasia. Am J Gastroenterol 1984; 79: 363-367.
93. Cooney T, Sweeney EC, Coll R, Greally M. Pseudocirrhosis in hereditary haemorrhagic telangiectasia. J Clin Pathol 1977; 30: 1134-1141.
94. Caselitz M, Chavan A, Manns MP, Wagner S. Die Hereditare Hamorrhagische Telangiektasie (Morbus Osler-Rendu-Weber) und ihre Manifestation an der Leber. Z Gastrenterol 2001; 39: 533-542.
95. Bernard G, Mion F, Henry L, Plauchau H, Paliard P. Hepatic involvement in hereditary hemorrhagic telangiectasia: Clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology 1993; 105: 482-487.
96. Michaeli D, Ben-Bassat I, Miller HI, Deutsch V. Hepatic telangiectases and portosystemic encephalopathy in Osler-Weber-Rendu disease. Gastroenterology 1968; 54: 929-932.
97. Weik C, Greiner L. The liver in hereditary hemorrhagic telangiectasia (Weber-Rendu-Osler disease). Scand J Gastroenterol 1999; 34: 1241-1246.
98. Kuehl HK, Caselitz M, Hasenkamp S, Wagner S, El-Harith EA, Manns MP, et al. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations. Hum Mutat 2005; 25: 320.
99. Argyriou L, Pfitzmann R, Wehner LE, Tewlkemeyer S, Neuhaus P, Nayernia K, et al. ALK1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia. Liver Transplant 2005; 11: 132-1135.
100. Snyder LH, Doan CA. Clinical and experimental studies in human inheritance: Homozygous form of multiple telangiectasia lethal? J Lab Clin Med 1944; 29: 1211-1216.
101. Karabegovic A, Shinawi M, Cymerman U, Letarte M. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary hemorrhagic telangiectasia. J Med Genet 2004; 41: E119.
102. El-Harith EA, Kuehnau W, Schmidtke J, Gadzicki D, Ahmed M, Krawczak M, et al. M. Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: Support of homozygous lethality. Eur J Med Genet 2006; 49: 323-330.
103. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Gene 2000; 91: 66-67.
104. Begbie ME, Wallace GMF, Shovlin CL. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): A view from the 21st century. Postgrad Med J 2003; 79: 18-24.
105. Saunders WH. Septal dermoplasty for hereditary telangiectasia and other conditions. Otolaryngol Clin North Am 1973; 6: 745-755.
106. van Cutsem E, Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet 1990; 335: 953-955.
107. Vase P. Estrogen treatment of hereditary hemorrhagic telangiectasia. A double-blind controlled clinical trial. Acta Med Scand 1981; 209: 393-396.
108. Harrison DFN. Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope 1982; 92: 314-320.
109. Lenz H, Eichler J. Endonasale chirurgische Technik mit dem Argonlaser. Laryng Rhinol Otol 1984; 63: 534-540.
110. Mohler ER, Monahan B, Canty MD, Flockhart DA. Cerebral abscess associated with dental procedure in hereditary haemorrhagic telangiectasia (Letter). Lancet 1991; 338: 508-509.
111. Christensen GJ. Nose bleeds may mean something more serious: An introduction to HHT. J Am Den Assoc 1998; 129: 635-637.
112. White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, et al. Pulmonary atriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology 1988; 169: 663-669.
113. Haitjema T, Westermarm CJ, Overtoom TT, Timmer R, Disch F, Mauser H, et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med 1996; 156: 714-719.
114. Menefee MG, Flessa HC, Glueck HI, Hogg SP: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Arch Otolaryngol 1975; 101: 246-251.
115. Goustout CJ, Bowyer BA, Ahlquist DA, Viggiano TR, Balm RK. Mucosal vascular malformations of the gastrointestinal tract: Clinical observations and results of endoscopic neodymium: yttrium-aluminium-garnet laser therapy. Mayo Clin Proc 1988; 63: 993-1003
116. Alison DJ, Jordan H, Hennessy O. Therapeutic embolisation of the hepatic artery: A review of 75 procedures. Lancet 1985; 1: 595-598.
117. Neumann UP, Knoop M, Langrehr JM, Keck H, Bechstein WO, Lobeck H, et al. Effective therapy for hepatic M. Osler with systemic hypercirculation by ligation of the hepatic artery and subsequent liver transplantation. Transpl Int 1998; 11: 323-326.
118. Boillot O, Bianco F, Viale JP, Mion F, Mechet I, Gille D, et al. Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement. Gastroenterology 1999; 166: 187-192.