A review on clinical management and pharmacological therapy on hereditary haemorrhagic telangiectasia (HHT)

Current Vascular Pharmacology

Volumn 8, Issue 4, 2010, Pages 473-481

  Zarrabeitia, Roberto ^a,d   Albiñana, Virginia ^b   Salcedo, Matilde ^c   Senaris Gonzalez B ^a   Fernandez Forcelledo, Jose Luis ^a   Botella, Luisa Maria ^b,d  

^a HOSPITAL SIERRALLANA   (Spain)

^b CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^c HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

ACVLR1 ALK1; Anti angiogenic agents; Antifibrinolytic coagulants; Antitumoral drugs; Endoglin; HHT; Immunosuppressant agents; TGF beta

Indexed keywords

ACETYLCYSTEINE; ACETYLSALICYLIC ACID; ALPHA APROTININ; AMINOCAPROIC ACID; ANGIOGENESIS INHIBITOR; ANTIFIBRINOLYTIC AGENT; BEVACIZUMAB; BLEOMYCIN; DANAZOL; DESMOPRESSIN; ESTRIOL; ESTROGEN; ETHINYLESTRADIOL PLUS NORETHISTERONE; FOLIC ACID; IMMUNOSUPPRESSIVE AGENT; IRON; ORPHAN DRUG; PHENYLEPHRINE; PHYTOESTROGEN; PROGESTERONE; RALOXIFENE; RAPAMYCIN; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT ERYTHROPOIETIN; RECOMBINANT GAMMA INTERFERON; TACROLIMUS; THALIDOMIDE; TRANEXAMIC ACID; UNCLASSIFIED DRUG; UNINDEXED DRUG; VASOCONSTRICTOR AGENT; XYLOMETAZOLINE;

ANEMIA; ARGON PLASMA COAGULATION; ARTERY LIGATION; ARTICLE; ARTIFICIAL EMBOLISM; ASCITES; BLINDNESS; BLOOD TRANSFUSION; BRACHYTHERAPY; CAUTERIZATION; CHOLESTASIS; CLINICAL TRIAL; DRUG HALF LIFE; DRUG SCREENING; ELECTROCOAGULATION; EPISTAXIS; FEMINIZATION; FISTULA; GASTROINTESTINAL HEMORRHAGE; GENE LOCUS; GENE MUTATION; HUMAN; HYPESTHESIA; INTERVENTIONAL RADIOLOGY; LABORATORY TEST; LASER COAGULATION; LIVER DISEASE; LIVER TRANSPLANTATION; LOW DRUG DOSE; NOSE RECONSTRUCTION; OCCLUSIVE DRESSING; PREVALENCE; PULMONARY ARTERIOVENOUS FISTULA; PULMONARY HYPERTENSION; QUALITY OF LIFE; RENDU OSLER WEBER DISEASE; SCLEROTHERAPY; SEPTODERMOPLASTY; SURGICAL TECHNIQUE; SYMPTOM; SYSTEMATIC REVIEW; THROMBOSIS;

EPISTAXIS; GASTROINTESTINAL HEMORRHAGE; HUMANS; HYPERTENSION, PULMONARY; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 77954700071     PISSN: 15701611     EISSN: None     Source Type: Journal    
DOI: 10.2174/157016110791330771     Document Type: Article

References (95)

1. Shovlin C L, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenus malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54: 71429.
2. 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: 31-9.
3. Jessurun GA, Kamphuis DJ, van der Zande FH, Nossent JC. Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg 1993; 95: 193-8.
4. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGFbeta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345-51.
5. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996; 13: 189-95.
6. Marchuk DA, Gallione CJ, Morrison LA, et al. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics 1995; 28: 311-4.
7. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005; 42: 577-82.
8. Bayrak-Toydemir P, McDonald J, Akarsu N, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A 2006;140: 2155-62.
9. Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291-7.
10. Pérez del Molino A, Zarrabeitia R, Fernández A. Hereditary hemorrhagic telangiectasia. Med Clin (Barc) 2005; 124: 583-7.
11. Morales-Angulo C, del Valle-Zapico A. Hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1998; 119: 293.
12. Os AA, Friedman CM, White RI Jr. The natural histury of epistaxis in Hereditary haemorrhagic telangiectasia. Laryngoscope 1991; 101: 977-80.
13. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333: 918-24.
14. Ingrosso M, Sabbà C, Pisani A, et al. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsuleendoscopic study. Endoscopy 2004; 36: 1074-9.
15. Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986; 91:1079-83.
16. Geisthoff UW, Schneider G, Fischinger J, Plinkert PK. Hereditary Haemorrhagic telangiectasia Osleŕs disease, an interdisciplinary challenge. HNO 2002; 50:114-128.
17. Chernelch M, Winchell HS, Poycove M, Sargent T, Kusbov N. Prolongued intravenous iron-dextran therapy in a patient with multiple hereditary telangiectasia. Blood 1969; 34: 691-5.
18. Shinkwin CA, Beasley N, Simo R, Rushton L, Jones NS. Evaluation of Surgicel Nu-knit, Merocel and Vasolene gauze nasal packs: a randomized trial. Rhinology 1996; 34: 41-3.
19. McCaffrey TV, Kern EB, Lake CF. Management of epistaxis in hereditary haemorrhagic telangiectasia. Review of 80 cases. Arch Otolaryngol 1977; 103: 627-30.
20. Vaiman M, Martinovich U, Eviatar E, Kessler A, Segal S. Fibrin glue in initial treatment of epistaxis in HHT. Blood Coagul Fibrinolys 2004; 15: 359-63.
21. Orsel I, Guillaume A, Feiss P. Anaphylactic shock caused by fibrin glue. Annales Francaises d Anesthesie et de Reanimation 1997; 16: 292-3.
22. Siegel MB, Keane WM, Atkins JF Jr, Rosen MR. Control of epistaxis in patients with hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1991; 105: 675-9.
23. Sadick H, Naim R, Oulmi J, Hörmann K, Bergler W. Plasma surgery and topical estriol: effects on the nasal mucosa and long-term results in patients with Osler's disease. Otolaryngol Head Neck Surg 2003; 129: 233-8.
24. Bergler W, Sadick H, Gotte K, Riedel F, Hörmann K. Topical estrogens combined with argon plasma coagulation in the management of epistaxis in hereditary hemorrhagic telangiectasia. Ann Otol Rhinol Laryngol 2002; 111: 222-8.
25. Borsik M, Herbreteau D, Deffrennes D, et al. Treatment of epistaxis in Rendu osler disease by intramucosal injection of ethibloc. Ann Otolaryngol Chir Cervicofac 1992; 109: 273-6.
26. Morais D, Ramírez B, Santos J. Local sclerosing treatment with etoxiesclerol in ORL disease: Rendu-Osler disease, granuloma, angioma. Acta Otorrinolaringol Esp 2002; 53: 658-6.
27. Palomeque JC, Ruiz HG. Efficacy of polidocanol in telangiectasic vascular alterations in Rendu Osleŕs disease. Clin Exper Pharmacol Physiol 2007; 34: 254.
28. Roux-Vaillard S, Pasco-Papon A, Laccourreye L, Dubin J. Treatment of epistaxis in Rendu Osler Weber Disease by in situ Ethibloc injections. J Neuroradiol 2004; 31: 110-5.
29. Pohar S, Mazeron JJ, Ghilezan M, Le Bourgeois JP, Pierquin B. Management of epistaxis in Rendu Osler disease: is brachytherapy effective? Int J Radiat Oncol Biol Phys 1993; 27: 1073-7.
30. Pizzi G, Turcato G, Polico R, Busetto M, Antonello M, Princivalli M. Brachitherapy of epistaxis in Rendu Olser disease. Indications, technique and results. Radiol Med 1995; 89: 861-4.
31. Gerbauklet A. Rendu Osler Weber disease. Radiother Oncol 1999; 53: 35.
32. Saunders WH. Septal dermoplasty for control of nose bleeds caused by hereditary hemorrhagic telangiectasia or septal perforations. Trans Am Acad Ophtalmol Otolaryngol 1960; 64: 500-06.
33. Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. Am J Rhinol 2007; 21: 312-5.
34. Ulsø C, Vase P, Stoksted P. Long term results of dermoplasty in the treatment of hereditary hemorrhagic telangiectasia. J Laryngol Otol 1983; 97: 223-6.
35. Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagictelangiectasia and septal perforation. Am J Rhinol 2007; 21: 312-5.
36. Lund VJ, Howard DJ. Closure of the nasal cavities in the treatment of refractory hereditary hemorrhagic telangiectasia. J Laryngol Otol 1997; 109: 95-9.
37. Schaitkin B, Strauss M, Houck JR. Epistaxis: medical vs. surgical therapy: a comparison of efficacy, complications and economic considerations. Laryngoscope 1987; 97: 1392-6.
38. Sokoloff J, Wickbom I, McDonald D, Brahme F, Goergen TC, Goldberger LE. Therapeutic percutaneous embolization in intractable epistaxis. Radiology 1974; 111: 285-7.
39. Elden L. Angiographyc embolization for the treatment of epistaxis: a review of 108 cases. Otorrhinolaryngol Head Neck Surg 2003; 11: 44-50.
40. Saba HI, Morelli GA, Logrono LA. Treatment of bleeding in Hereditary Hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994; 330:1789-90.
41. Annichino-Bizzacchi JM, Facchini RM, Torresan MZ, Arruda VR. Hereditary Hemorrhagic Telangiectasia response to aminocaproic acid treatment. Thromb Res 1999; 96: 73-6.
42. Korzenik JR, Topazian MD, White R. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Eng J Med 1994; 331: 1236.
43. Kwaan HC, Silverman S. Fibrinolytic activity in lesions of hereditary hemorrhagic telangiectasia. Arch Dermatol 1973; 107: 571-3.
44. Watanabe M, Hanawa S, Morishima T. Fibrinolytic activity in cutaneous lesions of hereditary hemorrhagic telangiectasia. Nippon Hifuka Gakkai Zasshi 1985; 95: 11-6.
45. Manucci PM. Hemostatic drugs. N Engl J Med 1998; 339: 245-53.
46. Sabbà C, Gallitelli M, Palasciano G. Efficacy of unusually high doses of tranexamic acid for the treatment of epistaxis in hereditary hemorrhagic telangiectasia. N Engl J Med 2001; 345: 926.
47. Klepfish A, Berrebi A, Schattner A. Intranasal tranexamic acid treatment for severe epistaxis in hereditary hemorrhagic telangiectasia. Arch Intern Med 2001; 161: 767.
48. Pérez del Molino A, Zarrabeitia R, Fernández A, Botella LM. Efficacy of tranexamic acid in a patient with hereditary hemorrhagic telangiectasia and massive epistaxis. Med Clin (Barc) 2004; 123: 118-9.
49. Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, et al. Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells.Thromb Haemost 2007; 97: 254-62.
50. Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost 2007; 98: 1031-9.
51. Longacre AV, Gross CP, Gallitelli M, Henderson KJ, White RI Jr, Proctor DD. Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2003; 98: 59-5.
52. Haq AU, Glass J, Netchvolodoff CV, Bowen LM. Hereditary hemorrhagic telangiectasia and danazol. Ann Intern Med 1988; 109: 171.
53. Korzenik JR. Danazol in the treatment of GI Hemmorrhage in HHT. Gastroenterology 1995; 108: 207.
54. Jameson JJ, Cave DR. Hormonal and antihormonal therapy for epistaxis in hereditary hemorrhagictelangiectasia. Laryngoscope 2004; 114: 705-9.
55. Zacharski LR, Dunbar SD, Newsom WA Jr. Hemostatic effects of tamoxifen in HHT. Thromb Haemost; 2001; 85: 371-2.
56. Zarrabeitia R, Perez del Molino A, Morales C, et al. Clinical and molecular diagnosis of 20 new HHT families in Sierrallana Hospital. Cantabria, Spain: Hematology meeting report no.1, 2007; p. 39.
57. Peterson K, Barnes S. Mechanisms of action of the soy isoflavone genistein: emerging role for its effects via transforming growth factor beta signalling pathways. Am J Clin Nutr 1998; 68: 1418-5.
58. Roy H, Bhardwaj S, Ylä-Herttuala S. Biology of vascular endothelial growth factors. FEBS Lett 2006; 580: 2879-7.
59. Cirulli A, Liso A, D'Ovidio F, et al. Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia. Acta Haematol 2003; 110: 29-2.
60. Sadick H, Riedel F, Naim R, et al. Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor beta1 as well as high ALK1 tissue expression. Haematologica 2005; 90: 818-8.
61. Peng HL, Hu GY, Zhang GS, Gong FJ. Analysis of angiogenesis related proteins and its implication in type-2 hereditary hemorrhagic telangiectasia. Zhonghua Xue Ye Xue Za Zhi 2006; 27: 616-20.
62. Hurwitz. Bevacizumab (a monoclonal antibody to vascular endothelial growth factor) prolongs survival in first-line colorectal cancer: results of a phase III trial of bevacizumab in combination with bolus IFL as first line therapy in subjects with metastatic colorectal cancer. CRC (abstract).Proc ASCO, 2003 CRC (abstract).Proc ASCO, 2003. NEJM 2004.
63. Michels S, Rosenfeld PJ, Puliafito CA, Marcus EN, Venkatraman AS. Systemic bevacizumab (Avastin) therapy for neovascular agerelated macular degeneration twelve-week results of an uncontrolled open-label clinical study. Ophthalmology 2005; 112: 1035-47.
64. Garcia-Tsao G, Korzenik JR, Young L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia.N Engl J Med 2000; 343: 931-6.
65. Mitchell A, Adams L, MacQuillan G, Tibballs J, vanen Driessen R, Delriviere L. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia. Liver Transplant 2008; 14: 210-13.
66. Flieger D, Hainke S, Fischbach W. Dramatic improvement in hereditary hemorrhagic telangiectasia after treatment with the vascular endothelial growth factor (VEGF) antagonist bevacizumab. Ann Hematol 2006; 85: 631-2.
67. Dal Lago L, Richter MF, Cancela AI, et al. Phase II trial and pharmacokinetic study of thalidomide in patients with metastatic colorectal cancer. Invest New Drugs 2003; 21: 359-6.
68. Kurstin R. Using thalidomide in a patient with epithelioid leiomyosarcoma and Osler-Weber-Rendu disease. Oncology (Williston Park) 2002; 16: 21-4.
69. Kersemaerkers MAH, Westermann CJJ, Mager JJ, De Weerdt O, Disch FJM, Snijder RJ. Thalidomide for the treatment of epistaxis in Hereditary haemorrhagic telangiectasia. Hematol Meet Rep 2007; 1: 22-3.
70. Massoud OI, Youssef WI, Mullen KD. Resolution of HHT anemia with prolongued -Interferon therapy for chronic hepatitis. J Clin Gastroenterol 2004; 38: 377-9.
71. Wheatley-Price P, Shovlin C, Chao D. Interferon for metastatic renal cell cancer causing regression of hereditary hemorrhagic telangiectasia. J Clin Gastroenterol 2005; 39: 344-5.
72. McAlister VC. Regression of cutaneous and gastrointestinal telangiectasia with sirolimus and aspirin in a patient with hereditary hemorrhagic telangiectasia. Ann Intern Med 2006; 144: 226-7.
73. Rajnoch J, Lodererova A, Szabo A, et al. Regulators of angiogenesis in renal ischemia/reperfusion injury in normotensive and hypertensive rats: effect of tacrolimus. Transplant Proc 2005; 37: 352-4.
74. Horsley V, Pavlath GK. NFAT: ubiquitous regulator of cell differentiation and adaptation. J Cell Biol 2002; 156: 771-4.
75. Giordano A, Romano S, Mallardo M, et al. FK506 can activate transforming growth factor-{beta} signalling in vascular smooth muscle cells and promote proliferation. Cardiovasc Res 2008; 79: 519-26.
76. Mager JJ, Gussem EM, Disch FJ, Snijder RJ, Zanen P, Westermann CJJ. A pilot study on the effect of acetylcisteina on epistaxis and quality of life in HHT. Hematol Meet Rep 2007: 19.
77. Duncan IC, Van Der Nest L. Intralesional bleomycin injections for the palliation of epistaxis in hereditary hemorrhagic telangiectasia. Am J Neuroradiol 2004; 25: 1144-6.
78. Quitt M, Froom P, Veisler A, Falber V, Sova J, Aghai E. The effect of desmopressin on massive gastrointestinal bleeding in hereditary telangiectasia unresponsive to treatment with cryoprecipitate. Arch Intern Med 1990; 150: 1744-6.
79. Van Cutsem E, Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet 1990; 335: 953-5.
80. Bown SG, Swain CP, Storey DW, et al. Endoscopic laser treatment of vascular anomalies of the upper gastrointestinal tract. Gut 1985; 26: 1338-8.
81. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with mutations in MAD4. Lancet 2004; 363: 852-9.
82. Buscarini E, Plauchu H, García Tsao G, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Intern 2006; 26: 1040-6.
83. Sabba C, Gallitelli M, Longo A, Cariati M, Angelelli G. Orthotopic liver transplantation and herditary hemorrhagic telangiectasia: do hepatic vascular malformations relapse? Long terms follow up study on two patients. J Hepatol 2004; 41: 687-9.
84. Orlando G, Sabba C, Carino NL, et al. Non transplant surgical approach to liver based hereditary haemorrhagic telangiectasia: a first report. Liver Intern 2008; 28: 574-7.
85. Chan P. Antibiotic profilaxis for patients with hereditary hemorrhagic telangiectasia. J Am Acad Dermatol 1992; 26: 282-3.
86. White RI, Lynch-Nyhan A, Terry P. Pulmonary arteriovenous malformations: techniques and long-term outcomes of embolotherapy. Radiology 1988; 169: 663-9.
87. Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RI. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty seven year experience. Chest 2008; 133: 653-1.
88. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia. Thorax 2008; 63: 259-6.
89. Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with HHT. N Engl J Med 2001; 345: 325-4.
90. Mache CJ, Gamillscheg A, Popper HH, Haworth SG. Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. Thorax 2008; 63: 85-6.
91. Abdalla SA, Gallione CJ, Barst RJ, et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 2004; 23: 373-7.
92. Austin E, Loyd J. Genetics and mediators in Pulmonary Arterial Hypertension. Clin Chest Med 2007; 28: 43-57.
93. Minai OA, Rigelsky C, Eng C, Arroliga AC, Stoller JK. Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia. Chest 2007; 131: 984-7.
94. Bonderman D, Nowotny R, Skoro-Sajer N, Adlbrecht C, Lang IM. Bosentan therapy for pulmonary arterial hypertension associated with hereditary haemorrhagic telangiectasia. Eur J Clin Invest 2006; 36: 71-2.
95. Albiñana V, Bernabeu-Herrero ME, Zarrabeitia R, et al. Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): effects of raloxifene on Enologlin and ALK1 expression in endothelial cells. Thromb Haemost 2010; 103: 524-34.