Hereditary haemorrhagic telangiectasia: A cause of preventable morbidity and mortality

Irish Journal of Medical Science

Volumn 178, Issue 2, 2009, Pages 135-146

  Brady, A P ^a   Murphy, M M ^a   O'Connor, T M ^a  

^a MERCY UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Cerebral AVMs; Embolization; Hereditary haemorrhagic telangiectasia; HHT; Pulmonary AVMs; Rendu Osler Weber syndrome

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; AMINOCAPROIC ACID; ANALGESIC AGENT; ANTIBIOTIC AGENT; ANTIFIBRINOLYTIC AGENT; DANAZOL; ENDOGLIN; ESTROGEN; ETHINYLESTRADIOL; ETHINYLESTRADIOL PLUS NORETHISTERONE; NONSTEROID ANTIINFLAMMATORY AGENT; NORETHISTERONE; PROGESTERONE; SEROTONIN; SMAD4 PROTEIN; THALIDOMIDE; TRANEXAMIC ACID; TRANSFORMING GROWTH FACTOR BETA;

AIR EMBOLISM; ANGINA PECTORIS; ANTIBIOTIC PROPHYLAXIS; ARTIFICIAL EMBOLISM; AUTOSOMAL DOMINANT INHERITANCE; BRADYCARDIA; BRAIN ARTERIOVENOUS MALFORMATION; CAUTERIZATION; CHEEK MUCOSA; CLINICAL TRIAL; CONTRAST ENHANCEMENT; CREAM; CYANOSIS; DEEP VEIN THROMBOSIS; DYSPNEA; ENDOMETRIAL DISEASE; EPISTAXIS; EXERCISE TOLERANCE; GASTROINTESTINAL HEMORRHAGE; HEMOPTYSIS; HUMAN; HYPOXEMIA; LASER COAGULATION; LUNG INFARCTION; MIGRAINE; MORBIDITY; MORTALITY; NEUROLOGIC DISEASE; PANCREAS DISEASE; PREGNANCY; PULMONARY ARTERIOVENOUS FISTULA; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; REVIEW; SUPERFICIAL THROMBOPHLEBITIS; TELANGIECTASIA; THORAX PAIN; THORAX RADIOGRAPHY; TRANSJUGULAR INTRAHEPATIC PORTOSYSTEMIC SHUNT; ARTERIOVENOUS MALFORMATION; IRELAND; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

ARTERIOVENOUS MALFORMATIONS; EMBOLIZATION, THERAPEUTIC; EPISTAXIS; HUMANS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; IRELAND; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 67649550854     PISSN: 00211265     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11845-008-0220-5     Document Type: Review

References (57)

1. Guttmacher AE, Marchuk DA, White RI (1995) Hereditary hemorrhagic telangiectasia. N Engl J Med 333:918-924. doi: 10.1056/ NEJM199510053331407
2. Begbie ME, Wallace GM, Shovlin CL (2003) Hereditary haemorrhagic telangiectasia Osler-Weber-Rendu syndrome: A view from the 21st century. Postgrad Med J 79:18-24. doi: 10.1136/pmj.79.927.18
3. Easey AJ, Wallace GMF, Hughes JMB, Jackson JE, Taylor WJ, Shovlin CL (2003) Should asymptomatic patients with hereditary haemorrhagic telangiectasia HHT be screened for cerebral vascular malformations? Data from 22061 years of HHT patient life. J Neurol Neurosurg Psychiatry 74:743-748. doi: 10.1136/jnnp.74.6.743
4. Faughnan ME, Palda V, Garcia-Tsao G, Geisthoff U, McDonald J, Proctor D et al (2007) Straus SE and the International HHT Guidelines working group. International Guidelines for diagnosis and management of HHT abstract. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 1:18
5. Saluja S, Henderson KJ, White RI (2000) Embolotherapy in the bronchial and pulmonary circulations. Radiol Clin North Am 38:425-448. doi: 10.1016/S0033-8389(05)70172-X
6. Shovlin CL, Letarte M (1999) Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax 54:714-729
7. Cole SG, Begbie ME, Wallace GMF, Shovlin CL (2005) A new locus for hereditary haemorrhagic telangiectasia HHT3 maps to chromosome 5. J Med Genet 42:577-582. doi: 10.1136/jmg.2004.028712
8. Bayrak-Toydemir P, McDonald J, Akarsu N et al (2006) A fourth locus for HHT maps to chromosome 7. Am J Med Genet 140A:2155. doi: 10.1002/ ajmg.a.31450
9. Krings T, Ozanne A, CHNG SM, Alvarez H, Rodesch G, Lasjaunias PL (2005) Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age: Review of 60 consecutive patients aged 1 day-60 years. Neuroradiology 47:711-720. doi: 10.1007/s00234-005-1390-8
10. Fiorella ML, Ross D, Henderson K, White RI (2005) Outcome of septal dermoplasty in patients with Hereditary hemorrhagic telangiectasia. Laryngoscope 115:301-305. doi: 10.1097/01.mlg.0000154754.39797.43
11. Saunders WH (1973) Septal dermoplasty for Hereditary telangiectasia and other conditions. Otolaryngol Clin North Am 6:745-755
12. Longacre AV, Gross CP, Gallitelli M, Henderson KJ, White RI Jr, Proctor DD (2003) Diagnosis and management of gastrointestinal bleeding in patients with Hereditary hemorrhagic telangiectasia. Am J Gastroenterol 98:59-65. doi: 10.1111/j.1572-0241.2003.07185.x
13. Elden L, Montanera W, ter Brugge K, Willinsky R, Lasjaunias P, Charles D (1994) Angiographic embolization for the treatment of epistaxis: A review of 108 cases. Otolaryngol Head Neck Surg 111:44-50
14. White RI, Pollak JS, Wirth JA (1996) Pulmonary arteriovenous malformations: Diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol 787-804
15. Abushaban L, Uthaman B, Endrys J (2004) Transcatheter Coil Closure of Pulmonary Arteriovenous Malformations in Children. J Interv Cardiol 171:23-26. doi: 10.1111/j.1540-8183.2004.00287.x
16. Adachi T, Oyama K, Kuwata H, Isaka T, Kikkawa T, Murasugi M et al (2004) Inadvertent coil migration that required urgent thoracotomy during embolization for the treatment of pulmonary arteriovenous fistula. Kyobu Geka. Jpn J Thorac Surg Tokyo 579:867-870
17. Nanthakumar K, Graham AT, Robinson TI, Grande P, Pugash RA, Clarke JA et al (2001) FAughnan ME. Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J 141:243-246. doi: 10.1067/mhj.2001.112682
18. Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, MacLusky I, Hyland RH et al (2004) Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy. J Pediatr 145:826-831. doi: 10.1016/ j.jpeds.2004.08.046
19. Jaskolka J, Wu L, Chan RP, Faughnan ME (2004) Imaging of Hereditary hemorrhagic telangiectasia. AJR 183:307-314
20. Post MC, Snijder RJ, Mager JJ, Luermans JGLM, Jaarsma W, Overtoom TT et al (2007) Screening for pulmonary arteriovenous malformation using transthoracic echocardiography: A prospective study. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 1:4-5
21. Vishwanath D, Mitchell RD, Wynne-Jones G, Rolfe E (2007) Ventilation-perfusion imaging used to indicate the cause of a brain abscess. Clin Radiol 62:487-490. doi: 10.1016/j.crad.2006.11.011
22. Won KS, Marom EM, Tateishi U, Namwongprom S, Kim EE (2007) Pulmonary arteriovenous fistula arising in renal cell carcinoma lung metastasis. Clin Radiol 62:812-816. doi: 10.1016/j.crad.2007.02.008
23. Faughnan ME, Lui YW, Wirth JA, Pugash RA, Reddelmeier DA, Hyland RH et al (2000) Diffuse pulmonary arteriovenous malformations: Characteristics and prognosis. Chest 117:31-38. doi: 10.1378/chest.117.1.31
24. Tal MG, Saluja S, Henderson KJ, White RI (2002) Vein of Galen technique for occluding the aneurysmal sac of pulmonary arteriovenous malformations. J Vasc Interv Radiol 13:1261-1264. doi: 10.1016/ S1051-0443(07)61975-7
25. Gupta S, Faughnan ME, Cohen JH, Miletin MS, Bayoumi AM (2007) Management of asymptomatic pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia; a decision analytic model abstract. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 1:5-6
26. Thengenatt J, Schneiderman J, Hyland RH, Edmeads J, Mandzia JL, Faughnan ME (2006) Migraines linked to intrapulmonary right-to-left shunt. Headache 46:439-443. doi: 10.1111/j.1526-4610.2006.00291.x
27. Post MC, Snijder RJ, Mager JJ, Schonewille WJ, Thijs V, Westermann CJJ (2007) Migraine characteristics in patients with and without pulmonary arteriovenous malformations abstract. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 1:5
28. Ference BA, Shannon TM, White RI, Zawin M, Burdge CM (1994) Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 106:1387-1390. doi: 10.1378/chest.106.5.1387
29. Andersen PE, Kjeldsen AD, Oxhoj H, Vase P, White RI Jr (1998) Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia Rendu-Osler-Weber syndrome. Acta Radiol 39:723-726
30. Terry PB, White RI, Barth KH, Kaufman SL, Mitchell SE (1983) Pulmonary arteriovenous malformations: Physiologic observations and results of therapeutic balloon embolization. N Engl J Med 308:1197-1200
31. Puskas JD, Allen MS, Moncure AC et al (1993) Pulmonary arteriovenous malformations: Therapeutic options. Ann Thorac Surg 56:253-258
32. Lee DW, White RI, Egglin TK, Pollak JS, Fayad PB, Wirth JA et al (1997) Embolotherapy of large pulmonary arteriovenous malformations: Long-term results. Ann Thorac Surg 64:930-940. doi: 10.1016/S0003-4975(97)00815-1
33. White RI Jr (1996) Pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: Embolotherapy using balloons and coils. Arch Intern Med 156:2627-2628 letter
34. Cil B, Canyiqit M, Ozkan OS, Pamuk GA, Doqan R (2006) Bilateral multiple pulmonary vascular malformations: Endovascular treatment with the Amplatzer Vascular Plug. J Vasc Interv Radiol 17:141-145
35. Robinson GJ, Dey R, Scott PM, Ettles DF (2007) The Amplatzer Vascular Plug - preliminary results of use in treating pulmonary arteriovenous malformations abstract. 7th HHT International Meeting, Capri, Italy, April 25-28 Hematology Meeting Reports 2007;1:6
36. White RI (2006) Re: Bilateral multiple pulmonary arteriovenous malformations: Endovascular treatment with the Amplatzer vascular plug letter. J Vasc Interv Radiol 17:141-145
37. Remy-Jardin M, Dumont P, Brillet P-Y, Dupuis P, Duhamel A, Remy J (2006) Pulmonary arteriovenous malformations treated with embolotherapy: Helical CT evaluation of long-term effectiveness after 2-21-year follow up. Radiology 239:576-585
38. Pollak JS, Saluja S, Thabet A, Henderson K, Denbow N, White RI Jr (2006) Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations abstract. J Vasc Interv Radiol 17:35-45
39. Sagara K, Miyazono N, Inoue H, Ueno K, Nishida H, Nakajo M (1998) Recanalization after coil embolotherapy of pulmonary arteriovenous malformations; study of long-term outcome and mechanism for recanalization. AJR 170:727-730
40. White RI Jr (1998) Recanalization after embolotherapy of pulmonary arteriovenous malformatiosn: Significance? Outcome? AJR 171:1704 (letter)
41. Haitjema T, Ten Berg JM, Overtoom T, Josephus MPGE, Westermann CJJJ (1996) Unusual complications after embolization of a pulmonary arteriovenous malformation. Chest 109:1401-1404
42. Dutton JAE, Jackson JE, Hughes JMB, Whyte MKB, Peters AM, Ussov W, Allison DJ (1995) Pulmonary arteriovenous malformations: Results of treatment with coil embolization in 53 patients. AJR 165:119-1125
43. Gossage JR, Kanj G (1998) Pulmonary arteriovenous malformations, a state of the art review. Am J Respir Crit Care Med 158:643-661
44. Halefoglu AM (2005) Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula. Australas Radiol 493:242-245
45. Siddiki H, Doherty MG, Fletcher JG, Stanson AW, Vrtiska TJ, Hough DM, Fidler JL, McCollough CH, Swanson KL (2008) Abdominal findings in hereditary hemorrhagic telangiectasia: Pictorial essay on 2D and 3D findings with isotropic multiphase CT. Radiographics 28:171-183
46. Hashimoto M, Tate E, Nishii T, Watarai J, Shioya T, White RI (2003) Angiography of hepatic vascular malformations associated with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol 26:177-180
47. Stabile Ianora AA, Memeo M, Sabba C, Cirulli A, Rotondo A, Angelelli G (2004) Hereditary hemorrhagic telangiectasia: Multi-detector row CT assessment of hepatic involvement. Radiology 230:250-259
48. Saluja S, White RI (2004) Herditary Hemorrhagic Telangiectasia of the liver: Hyperperfusion with relative ischaemia - Poverty amidst plenty. Radiology 230:25-27
49. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, Pollak JS, White RI Jr (2000) Liver disease in patients with hereditary hemorrhagic telangiectasia. NEJM 343:931-936
50. Matsumoto S, Mori H, Yamada Y, Hayashida T, Hori Y, Kiyosue H (2004) Intrahepatic porto-hepatic venous shunts in Rendu-Osler-Weber disease: imaging demonstration. Eur Radiol 14:592-596
51. Chavan A, Caselitz M, Gratz K-F, Lotz J, Kirchoff T, Piso P, Wagner S, Manns M, Galanski M (2004) Hepatic artery embolization for treatment of patients with hereditary hemorrhagic telangiectasia and symptomatic hepatic vascular malformations. Eur Radiol 14:2079-2085
52. Buscarini E, Plauchu H, Garcia Tsao G, White RI, Sabba C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME (2006) Liver involvement in hereditary hemorrhagic telangiectasia: Consensus recommendations. Liver Int 26:1040-1046
53. Pelage JP, Lacout A, Lesur G, Chinet T, Roume J, Bourgault I, Lacombe P (2007) Multidetector row computed tomography in the evaluation of pancreatic involvement in patients with hereditary haemorhhagic telangiectasia. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 1:20
54. Matsubara S, Manzia JL, ter Brugge K, Willinsky RA, Montanera W, Faughnan ME (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. Am J Neuroradiol 21:1016-1020
55. Fulbright R, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK, Fayad PB, Awad IA, White RI Jr (1998) MR of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations. AJNR 19:477-484
56. Lasjaunias P, Mahadevan J, Krings T, Ozanne O, Alvarez H (2007) Cerebro medullary arteriovenous locations in children and adults with HHT abstract. 7th HHT International Meeting, Capri, Italy, April 25-28. Hematology Meeting Reports 2007;1:43
57. Shovlin CL, Macedo P, Mordin C, McCarthy A, Jackson JE. Maternal risks of pregnancy for individuals with pulmonary arteriovenous malformations and hereditary haemorrhagic telangiectasia abstract. 7th HHT International Meeting, Capri, Italy, April 25-28, 2007. Hematology Meeting Reports 2007;1:5