Tuberc Respir Dis.  2009 Apr;66(4):314-318.

A Familial Case of Hereditary Hemorrhagic Telangiectasia

Affiliations
  • 1Department of Internal Medicine, Inje University College of Medicine, Goyang, Korea. jwhuh@paik.ac.kr
  • 2Department of Radiology, Inje University College of Medicine, Goyang, Korea.

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.

Keyword

Hereditary hemorrhagic telangiectasia; Arteriovenous malformations; Epistaxis; Embolization

MeSH Terms

Arteriovenous Malformations
Epistaxis
Humans
Laser Therapy
Male
Middle Aged
Pedigree
Prevalence
Siblings
Telangiectasia, Hereditary Hemorrhagic
Telangiectasis

Figure

  • Figure 1 The genogram shows relative with recurrent epistaxis. These cases' sister (*) with pulmonary arteriovenous malformations was treated with lobectomy and embolization.

  • Figure 2 Finger tips show sparse telangiectasia (A) and a computed tomographic scan (B) shows an arteriovenous malformation (white arrow).

  • Figure 3 Pulmonary angiograms reveal multiple pulmonary arteriovenous malformations in both lungs.

  • Figure 4 Nasal endoscopies show epistaxis and multiple telangiectasis on both nasal cavities.

  • Figure 5 Bronchoscopy reveals multiple telangiectasis on tongue and bronchus.


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. 345:325–334.
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. 74:452–457.
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. 91:66–67.
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. 156:714–719.
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. 50:221–238.
7. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990. 95:422–427.
8. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995. 333:918–924.
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. 32:291–297.
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. 116:432–439.
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. 43:41–44.
12. Andersen PE, Kjeldsen AD, Oxhøj H, Vase P, White RI Jr. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol. 1998. 39:723–726.
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. 19:140–148.
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. 343:931–936.
Full Text Links
  • TRD
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr