바로가기메뉴

본문 바로가기 주메뉴 바로가기

Tuberculosis & Respiratory Diseases

Article Contents

Prev Next
e-Submission

Vol.66 No.4
Citation Share

A Familial Case of Hereditary Hemorrhagic Telangiectasia

Tuberculosis & Respiratory Diseases / Tuberculosis & Respiratory Diseases,
2009, v.66 no.4, pp.314-318











& (2009). A Familial Case of Hereditary Hemorrhagic Telangiectasia. Tuberculosis & Respiratory Diseases, 66(4), 314-318.
  • Downloaded
  • Viewed
PDF Download

Abstract

Hereditary hemorrhagic telangiectasia (HHT, also called Osler-Weber-Rendu Disease) is a rare systemic fibrovascular dysplasia characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). HHT is an autosomal dominant disease with a prevalence of 1 in 5,000∼8,000. Recurrent epistaxis is often the first and most common manifestation, and about 30% of patients reveal pulmonary AVM. Presently, we report a familial case of HHT. A 61-year-old male with asymptomatic multiple pulmonary AVMs was successfully treated with embolization. His older brother who presented with recurrent epistaxis and multiple telangiectasias was treated with laser ablation. Their pedigree revealed a family history of recurrent epistaxis.

keywords
Hereditary hemorrhagic telangiectasia, Arteriovenous malformations, Epistaxis, Embolization

Reference

1.

Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 2003;79:18-24.

2.

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;345:325-34.

3.

Juares AJ, Dell'Aringa AR, Nardi JC, Kobari K, Gradim Moron Rodrigues VL, Perches Filho RM. Rendu-Osler- Weber syndrome: case report and literature review. Braz J Otorhinolaryngol 2008;74:452-7.

4.

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 Genet 2000;91:66-7.

5.

Haitjema T, Westermann 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;156:714-9.

6.

Sabba C, Pasculli G, Cirulli A, Gallitelli M, Virgilio G, Resta F, et al. Hereditary hemorrhagic teleangiectasia (Rendu-Osler-Weber disease). Minerva Cardioangiol 2002;50:221-38.

7.

Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990;95:422-7.

8.

Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-24.

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.

Kjeldsen AD, Oxhoj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999;116:432-9.

11.

Tabakow P, Jarmundowicz W, Czapiga B, Czapiga E. Brain abscess as the first clinical manifestation of multiple pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia (Rendu- Osler-Weber disease). Folia Neuropathol 2005;43:41-4.

12.

Andersen PE, Kjeldsen AD, Oxhϕj H, Vase P, White RI Jr. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol 1998;39:723-6.

13.

Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169:994-1000.

14.

Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002;19:140-8.

15.

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;343:931-6.

Tuberculosis & Respiratory Diseases

e-Submission OA Policy