eMedicine Specialties > Dermatology > Diseases of the Vessels
Osler-Weber-Rendu Syndrome: Follow-up
Updated: May 6, 2009
Follow-up
Prognosis
- Most patients with Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), have a favorable prognosis.
- The prognosis depends on the degree of systemic involvement, especially involvement of the pulmonary, hepatic, and central nervous systems. Only 10% of patients die from complications of their disease.
Patient Education
- Educate patients about the possibility of their offspring having the disorder or being carriers.
Miscellaneous
Medicolegal Pitfalls
- The heritable nature of HHT requires diagnostic accuracy. Once the diagnosis is confirmed, encourage the family to undergo screening.
- A failure to screen for complications such as pulmonary AVMs and cerebral vascular malformations may lead to liability issues.
Special Concerns
- Antenatal treatment of women with HHT and pulmonary arteriovenous malformations may prevent potentially life-threatening fetomaternal complications.
The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors, Geromanta Baleviciene, MD, and Richard J. Cervin, MD, to the development and writing of this article.
More on Osler-Weber-Rendu Syndrome |
| Overview: Osler-Weber-Rendu Syndrome |
| Differential Diagnoses & Workup: Osler-Weber-Rendu Syndrome |
| Treatment & Medication: Osler-Weber-Rendu Syndrome |
Follow-up: Osler-Weber-Rendu Syndrome |
| Multimedia: Osler-Weber-Rendu Syndrome |
| References |
| « Previous Page | Next Page » |
References
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].
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].
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].
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].
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].
Goodenberger DM. Visceral manifestations of hereditary hemorrhagic telangiectasia. Trans Am Clin Climatol Assoc. 2004;115:185-99. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
Harrison DF. Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope. Mar 1982;92(3):314-20. [Medline].
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].
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].
Isaacs E. Aminocaproic Acid. In: Pediatric Drug Dosage Handbook. 8th ed. Ottawa, Canada: Winnipeg Health Sciences Center and CSHP; 1998:161.
Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. Aug 2000;47(3-4):81-90. [Medline].
Byard RW, Schliebs J, Koszyca BA. Osler-Weber-Rendu syndrome--pathological manifestations and autopsy considerations. J Forensic Sci. May 2001;46(3):698-701. [Medline].
Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA. Screening in hereditary hemorrhagic telangiectasia patients. Chest. Aug 2000;118(2):566-7. [Medline].
Fritzler MJ, Arlette JP, Behm AR, Kinsella TD. Hereditary hemorrhagic telangiectasia versus CREST syndrome: can serology aid diagnosis?. J Am Acad Dermatol. Feb 1984;10(2 Pt 1):192-6. [Medline].
Maher CO, Piepgras DG, Brown RD Jr, Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke. Apr 2001;32(4):877-82. [Medline].
Matsuo M, Kanematsu M, Kato H, Kondo H, Sugisaki K, Hoshi H. Osler-Weber-Rendu disease: visualizing portovenous shunting with three-dimensional sonography. AJR Am J Roentgenol. Apr 2001;176(4):919-20. [Medline].
Morphet JA. Osler-Weber-Rendu syndrome. CMAJ. Nov 7 2006;175(10):1243. [Medline].
Pau H, Carney AS, Murty GE. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. Clin Otolaryngol. Apr 2001;26(2):93-8. [Medline].
Soong HK, Pollock DA. Hereditary hemorrhagic telangiectasia diagnosed by the ophthalmologist. Cornea. Nov 2000;19(6):849-50. [Medline].
Further Reading
Keywords
Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia, HHT, morbus Osler, Rendu-Osler-Weber syndrome, Rendu-Osler syndrome, Osler's disease, Osler disease
Follow-up: Osler-Weber-Rendu Syndrome