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Screening for arteriovenous malformations in hereditary haemorrhagic telangiectasia

Published online by Cambridge University Press:  05 July 2016

S Jervis  and
D Skinner
S Jervis*
Affiliation:
ENT Department, Princess Royal Hospital, Shrewsbury and Telford Hospital NHS Trust, Telford, UK
D Skinner
Affiliation:
ENT Department, Princess Royal Hospital, Shrewsbury and Telford Hospital NHS Trust, Telford, UK
*
Address for correspondence: Mrs Suzanne Jervis, ENT Department, Princess Royal Hospital, Apley Castle, Grainger Drive, Telford TF1 6TF, UK Fax: 01952 565 718 E-mail: suziejervis@hotmail.com
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Abstract

Objective:

To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia.

Methods:

A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia. Databases searched included Medline, the Cumulative Index to Nursing and Allied Health Literature, and Embase.

Results:

Screening investigations were most frequently performed for hepatic arteriovenous malformations and least frequently for genetics. Recent data suggest avoiding routine genetic and cerebral arteriovenous malformation screening because of treatment morbidities; performing high-resolution chest computed tomography for pulmonary arteriovenous malformation screening; using capsule endoscopy (if possible) to reduce complications from upper gastrointestinal endoscopy; and omitting routine liver enzyme testing in favour of Doppler ultrasound.

Conclusion:

Opportunities for systemic arteriovenous malformation screening are frequently overlooked. This review highlights the need for screening and considers the form in which it should be undertaken.

Keywords

Hereditary Hemorrhagic TelangiectasiaArteriovenous MalformationScreeningGuidelinesTreatment
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 130 , Issue 8 , August 2016 , pp. 734 - 742
Copyright
Copyright © JLO (1984) Limited 2016 

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Footnotes

Presented orally at the annual summer meeting of the Midland Institute of Otology, 6 May 2014, Cheltenham, and as a poster at the 15th British Academic Conference in Otolaryngology, 8–10 July 2015, Liverpool, UK.

References

1 Braverman, I, Keh, A, Jacobson, B. Ultrastructure and three-dimensional organization of the telangiectases of hereditary haemorrhagic telangiectasia. J Invest Dermatol 1990;95:422–7CrossRefGoogle Scholar
2 Letteboer, T, Mager, J, Snijder, R, Koeleman, BP, Lindhout, D, Ploos van Amstel, JK et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 2006;43:371–7Google Scholar
3 McAllister, K, Grogg, K, Johnson, D, Gallione, CJ, Baldwin, MA, Jackson, CE et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345–51CrossRefGoogle ScholarPubMed
4 Johnson, D, Berg, J, Baldwin, M, 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 1996;13:189–95Google Scholar
5 Gallione, C, Repetto, G, Legius, E, Rustgi, AK, Schelley, SL, Teipar, S et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004;363:852–9CrossRefGoogle Scholar
6 Dupuis-Girod, S, Bailly, S, Plauchu, H. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost 2010;8:1447–56Google Scholar
7 Kjeldsen, A, Møller, T, Brusgaard, K, Vase, P, Andersen, P. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J Intern Med 2005;258:349–55CrossRefGoogle ScholarPubMed
8 Paez, C, Giraud, S, Lesca, G, Decullier, E, Babin, E, Carette, M et al. Genotype-phenotype correlations in hereditary haemorrhagic telangiectasia. Data of the French Rendu-Osler-Weber cohort. Hematol Rep 2013;5(suppl 1):12 Google Scholar
9 Donaldson, J, McKeever, T, Hall, I, Hubbard, R, Fogarty, A. The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax 2014;69:161–7Google Scholar
10 Office of National Statistics. Mortality Statistics: Deaths registered in 2011. In: http://www.ons.gov.uk/ons/publications/re-reference-tables.html?edition=tcm%3A77-277727 [10 July 2013]Google Scholar
11 Kjeldsen, A, Vase, P, Green, A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999;245:31–9Google Scholar
12 Sabba, C, Pasculli, G, Suppressa, P, D'Ovidio, F, Lenato, G, Resta, F et al. Life expectancy in patients with hereditary haemorrhagic telangiectasia. QJM 2006;99:327–34CrossRefGoogle ScholarPubMed
13 Goodwin, J, Nisenbaum, R, Edwards, C, Faughnan, M. Pulmonary arteriovenous malformations and survival. Am J Respir Crit Care Med 2010;181:A4817 Google Scholar
14 Garcia-Tsao, G, Korzenik, J, Young, L, Henderson, KJ, Jain, D, Byrd, B et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:932–6Google Scholar
15 Faughnan, M, Palda, V, Garcia-Tsao, G, Geisthoff, U, McDonald, J, Proctor, D et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48:73–87 CrossRefGoogle ScholarPubMed
16 Berg, J, Porteus, 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;40:585–90Google Scholar
17 Os, A, Friedman, C, White, RJ. The natural history of epistaxis in hereditary haemorrhagic telangiectasia. Laryngoscope 1991;101:977–80Google Scholar
18 Plauchu, H, de Chadarevian, J, Bideau, A, Robert, J. Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291–7CrossRefGoogle Scholar
19 Porteus, M, Burn, J, Proctor, S. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527–30Google Scholar
20 Shovlin, C, Guttmacher, A, Buscarini, E, Faughnan, M, Hyland, R, Westermann, C et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66–73.0.CO;2-P>CrossRefGoogle ScholarPubMed
21 Lund, V, Howard, D. A treatment algorithm for the management of epistaxis in hereditary haemorrhagic telangiectasia. Am J Rhinol 1999;13:319–22Google Scholar
22 Harvey, R, Kanagalingam, J, Lund, V. The impact of septodermoplasty and potassium-titanyl-phosphate (KTP) laser therapy in the treatment of hereditary hemorrhagic telangiectasia-related epistaxis. Am J Rhinol 2008;22:182–7CrossRefGoogle ScholarPubMed
23 Verkerk, M, Shovlin, C, Lund, V. Silent threat? A retrospective study of screening practices for pulmonary arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia. Rhinology 2012;30:277–83Google Scholar
24 Shovlin, C. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010;24:203–13CrossRefGoogle ScholarPubMed
25 Govani, F, Shovlin, C. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009;17:860–71Google Scholar
26 Kjeldsen, A, Oxhøj, H, Andersen, P, Green, A, Vase, P. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 2000;248:255–62Google Scholar
27 Shovlin, C, Jackson, J, Bamford, K, Jenkins, I, Benjamin, A, Ramadan, H et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 2008;63:259–66Google Scholar
28 Velthuis, S, Buscarini, E, Van Gent, M, Gazzaniga, P, Manfredi, G, Danesino, C et al. Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications; a striking association. Hematol Rep 2013;5(suppl 1):33 Google Scholar
29 Velthuis, S, Buscarini, E, Van Gent, M, Gazzaniga, P, Danesino, C, Westermann, C et al. Pulmonary shunt grading on transthoracic contrast echocardiography predicts the indication for transcatheter embolotherapy of pulmonary arteriovenous malformations. Hematol Rep 2013;5(suppl 1):32 Google Scholar
30 Kucukay, F, Ozdemir, M, Senol, E, Okten, S, Ereren, M, Karan, A. Large pulmonary arteriovenous malformations: long-term results of embolization with Amplatzer vascular plugs. J Vasc Interv Radiol 2014;25:1327–32Google Scholar
31 van Gent, M, Post, M, Snijder, R, Westermann, C, Plokker, H, Mager, J. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest 2010;138:833–9CrossRefGoogle ScholarPubMed
32 Cartin-Ceba, R, Swanson, KL, Krowka, MJ. Pulmonary arteriovenous malformations. Chest 2013;144:1033–44Google Scholar
33 Hanneman, K, Faughnan, M, Prabhudesai, V. Cumulative radiation dose in patients with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. Can Assoc Radiol J 2014;65:135–40CrossRefGoogle ScholarPubMed
34 Shovlin, C. Pulmonary arteriovenous malformations. Am J Respir Crit Care Med 2014;190:1217–28Google Scholar
35 Fulbright, R, Chaloupka, J, Putman, C, Sze, GK, Merriam, M, Lee, GK et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 1998;19:477–84Google Scholar
36 Easey, A, Wallace, G, Hughes, J, Jackson, J, Taylor, W, Shovlin, C. Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry 2003;74:743–8Google Scholar
37 Fleetwood, I, Steinberg, G. Arteriovenous malformations. Lancet 2002;359:863–73Google Scholar
38 Pikus, H, Beach, M, Harbaugh, R. Microsurgical treatment of arteriovenous malformations: analysis and comparison with stereotactic radiosurgery. J Neurosurg 1998;88:641–6Google Scholar
39 Maraire, J, Awad, I. Intracranial cavernous malformations: lesion behaviour and management strategies. Neurosurgery 1995;37:591–605 CrossRefGoogle ScholarPubMed
40 Baharvahdat, H, Blanc, R, Termechi, R, Pistocchi, S, Bartolini, B, Redjem, H et al. Hemorrhagic complications after endovascular treatment of cerebral arteriovenous malformations. AJNR Am J Neuroradiol 2014;35:978–83Google Scholar
41 Mohr, J, Parides, M, Stapf, C, Moquete, E, Moy, C, Overbey, J et al. Medical management with or without interventional therapy for unruptured brain arteriovenous malformations (ARUBA): a multicentre, non-blinded, randomised trial. Lancet 2014;383:614–21Google Scholar
42 Willinsky, R, Taylor, S, TerBrugge, K, Farb, R, Tomlinson, G, Montanera, W. Neurologic complications of cerebral angiography: prospective analysis of 2,899 procedures and review of the literature. Radiology 2003;227:522–8Google Scholar
43 Ianora, A, Memeo, M, Sabba, C, Cirulli, A, Rotondo, A, Angelelli, G. Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement. Radiology 2004;230:250–9Google Scholar
44 Scardapane, A, Ficco, M, Sabba, C, Lorusso, F, Moschetta, M, Maggialetti, N et al. Hepatic nodular regenerative lesions in patients with hereditary haemorrhagic telangiectasia: computed tomography and magnetic resonance findings. Radiol Med 2013;118:1–13 Google Scholar
45 Memeo, M, Stabile Ianora, A, Scardapane, A, Suppressa, P, Cirulli, A, Sabbà, C et al. Hereditary haemorrhagic telangiectasia: study of hepatic vascular alterations with multi-detector row helical CT and reconstruction programs. Radiol Med 2005;109:125–38Google Scholar
46 Buscarini, E, Danesino, C, Olivieri, C, Lupinacci, G, De Grazia, F, Reduzzi, L et al. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia – results of extensive screening. Ultraschall Med 2004;25:348–55CrossRefGoogle ScholarPubMed
47 Buscarini, E, Plauchu, H, Garcia Tsao, G, White, R Jr, Sabbà, C, Miller, F et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int 2006;26:1040–6CrossRefGoogle ScholarPubMed
48 Chavan, A, Luthe, L, Gebel, M, Barg-Hock, H, Seifert, H, Raab, R et al. Complications and clinical outcome of hepatic artery embolisation in patients with hereditary haemorrhagic telangiectasia. Eur Radiol 2013;23:951–7Google Scholar
49 Buscarini, E, Manfredi, G, Gazzaniga, P, Reduzzi, L, Danesino, C, Olivieri, C et al. How many HHT patients will require invasive treatments for symptomatic hepatic vascular malformations (HAVMS) along follow-up? Haematol Meet Rep 2009;3:23 Google Scholar
50 Dupuis-Girod, S, Ginon, I, Saurin, J, Marion, D, Guillot, E, Decullier, E et al. Follow-up of HHT patients treated with bevacizumab for severe hepatic vascular malformations and high cardiac output (Metafore clinical trial). Hematol Rep 2013;5(suppl 1):9 Google Scholar
51 Young, L, Henderson, K, White, R, Garcia-Tsao, G. Bevacizumab: finding its niche in the treatment of heart failure secondary to liver vascular malformations in hereditary hemorrhagic telangiectasia. Hepatology 2013;58:442–5Google Scholar
52 Singh, S, Swanson, K, Kamath, P. Liver enzyme abnormalities in predicting presence and progression of hepatic vascular malformations in hereditary hemorrhagic telangiectasia (HHT). Gastroenterology 2012;142(suppl 1):S947–8 Google Scholar
53 Singh, S, Swanson, K, Kamath, P. Clinically significant hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Gastroenterology 2012;142:S947 Google Scholar
54 Buscarini, E, Buscarini, L, Danesino, C, Piantanida, M, Civardi, G, Quaretti, P et al. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family. J Hepatol 1997;26:111–18CrossRefGoogle Scholar
55 Caselitz, M, Bahr, M, Bleck, J, Chavan, A, Manns, M, Wagner, S et al. Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Hepatology 2003;37:1139–46Google Scholar
56 Guillot, E, Marion, D, Decullier, E, Saurin, J, Plauchu, H, Calender, A et al. Comparison of CT-scan and contrast-enhanced ultrasonography to screen liver involvement in HHT. Hematol Rep 2011;3(suppl 2):5 Google Scholar
57 Montifar, M, Kasthuri, R, Kim, H, Young, W, Faughnan, M. Anemia is an important clinical problem in HHT. Hematol Rep 2013;5(suppl 1):31 Google Scholar
58 Rozenberg, D, Faughnan, M. Bronchoscopy and gastrointestinal (GI) endoscopy in patients with hereditary hemorrhagic telangiectasia (HHT). Chest 2011;140:868A Google Scholar
59 Greve, E, Moussata, D, Gaudin, J, Lapalus, M, Giraud, S, Dupuis-Girod, S et al. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest Endosc 2010;71:760–7CrossRefGoogle ScholarPubMed
60 Manfredi, G, Crino, S, De Grazia, F, Lupinacci, G, Brambilla, G, Menozzi, F et al. Long-term results of extensive endoscopic treatment of GI telangiectasias in patients with hereditary hemorrhagic telangiectasia (HHT) and gastrointestinal bleeding. Dig Liver Dis 2014;46:S45 Google Scholar
61 Manfredi, G, Buscarini, E, De Grazia, F, Lupinacci, G, Menozzi, F, Brambilla, G et al. Efficacy and safety of thalidomide for treatment of chronic severe GI bleeding in hereditary hemorrhagic telangiectasia. Hematol Rep 2013;5(suppl 1):26 Google Scholar
62 Royal Pharmaceutical Society of Great Britain. British National Formulary 58. London: British Medical Association and Royal Pharmaceutical Society of Great Britain, 2009 Google Scholar
63 Radwi, M, Ponnampalam, A, Faughnan, M, Shehata, N. A systematic review on the use of pharmacological agents in patients with hereditary hemorrhagic telangiectasia (HHT). Blood 2013;122(21)Google Scholar
64 Kanellopoulou, T, Alexopoulou, A. Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia. Expert Opin Biol Ther 2013;13:1315–23CrossRefGoogle ScholarPubMed
65 Sabbà, C, Pompili, M. Review article: the hepatic manifestations of hereditary haemorrhagic telangiectasia. Aliment Pharmacol Ther 2008;28:523–33CrossRefGoogle ScholarPubMed