Dermatologic Manifestations of Osler-Weber-Rendu Syndrome Treatment & Management

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jun 25, 2010
 

Medical Care

One third of the cases of Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), are mild, one third are moderate, and one third are severe.

  • In mild cases of HHT, no treatment is necessary.
  • Individual skin lesions may be obliterated with cautery or dye laser surgery.[17]
  • In severe cases of HHT, recurrent epistaxis is treated surgically with nasal septum skin transplants by using skin taken from the lower trunk.
  • Severe cases of HHT may respond to estrogen therapy.[18]
  • Pulmonary hemorrhage may be stopped with surgery by using silicone balloon tamponade or other means.
  • Antibiotic prophylaxis should be considered during treatment procedures because transient bacteremia may seed arteriovenous malformations.
  • Buscarini et al report on the use of bevacizumab to treat complicated liver vascular malformations.[19]
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Surgical Care

See Medical Care above.

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Consultations

  • A dermatologist may be consulted.
  • An internal medicine specialist may be helpful.
  • A neurologist may offer assistance.
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Activity

  • Patients should restrict their activity during episodes of acute bleeding.
  • Patients with severe anemia should restrict their activity as well.
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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Mark A Crowe, MD  Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Christen M Mowad, MD  Associate Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. Jul 1997;61(1):68-79. [Medline].

  2. Grover S, Grewal RS, Verma R, Sahni H, Muralidhar R, Sinha P. Osler-Weber-Rendu syndrome: a case report with familial clustering. Indian J Dermatol Venereol Leprol. Jan-Feb 2009;75(1):100-1. [Medline].

  3. Urushihara M, Furukawa S, Ota A, Iwai A, Matsumura K, Hamada Y. Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant. Pediatr Int. Dec 2000;42(6):693-5. [Medline].

  4. Jakobi P, Weiner Z, Best L, Itskovitz-Eldor J. Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations. Obstet Gynecol. May 2001;97(5 Pt 2):813-4. [Medline].

  5. McDonald MJ, Brophy BP, Kneebone C. Rendu-Osler-Weber syndrome: a current perspective on cerebral manifestations. J Clin Neurosci. Jul 1998;5(3):345-50. [Medline].

  6. Goodenberger DM. Visceral manifestations of hereditary hemorrhagic telangiectasia. Trans Am Clin Climatol Assoc. 2004;115:185-99. [Medline].

  7. Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. Eur J Pediatr. Feb 2009;168(2):135-9. [Medline].

  8. Garcia-Tsao G, Swanson KL. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. Hepatology. Nov 2008;48(5):1377-9. [Medline].

  9. McDonald MT, Papenberg KA, Ghosh S. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. Feb 1994;6(2):197-204. [Medline].

  10. De Pascalis A, Napoli M, Aprile M, Antonaci A, D'Amelio A, Buongiorno E. Gross hematuria due to acquired haemophilia in hereditary hemorrhagic telangiectasia. Blood Coagul Fibrinolysis. Oct 2008;19(7):731-3. [Medline].

  11. Manson D, Traubici J, Mei-Zahav M, MacLuskey I, John P, Stephens D. Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia. Pediatr Radiol. Mar 2007;37(3):264-8. [Medline].

  12. Suga K, Ishikawa Y, Matsunaga N, Tanaka N, Suda H, Handa T. Liver involvement in hereditary haemorrhagic telangiectasia: assessment with 99Tcm-phytate radionuclide angiography and 123I-IMP transrectal portal scintigraphy. Br J Radiol. Oct 2000;73(874):1115-9. [Medline].

  13. Milot L, Kamaoui I, Gautier G, Pilleul F. Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. Gastroenterol Clin Biol. Aug-Sep 2008;32(8-9):677-85. [Medline].

  14. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. Apr 23 2010;[Medline].

  15. Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, et al. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clin Genet. Apr 14 2010;[Medline].

  16. Greve E, Moussata D, Gaudin JL, 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. Apr 2010;71(4):760-7. [Medline].

  17. Harries PG, Brockbank MJ, Shakespeare PG, Carruth JA. Treatment of hereditary haemorrhagic telangiectasia by the pulsed dye laser. J Laryngol Otol. Nov 1997;111(11):1038-41. [Medline].

  18. Harrison DF. Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope. Mar 1982;92(3):314-20. [Medline].

  19. Buscarini E, Manfredi G, Zambelli A. Bevacizumab to treat complicated liver vascular malformations in hereditary hemorrhagic telangiectasia: a word of caution. Liver Transpl. Nov 2008;14(11):1685-6; author reply 1687-8. [Medline].

  20. Yaniv E, Preis M, Hadar T, Shvero J, Haddad M. Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. Laryngoscope. Feb 2009;119(2):284-8. [Medline].

  21. Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, et al. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med. Apr 2010;16(4):420-8. [Medline].

  22. Isaacs E. Aminocaproic Acid. In: Pediatric Drug Dosage Handbook. 8th ed. Ottawa, Canada: Winnipeg Health Sciences Center and CSHP; 1998:161.

 
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Typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
Close-up view of typical symptoms of patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the lips.
Close-up view of typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
 
 
 
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