eMedicine Specialties > Dermatology > Diseases of the Vessels

Osler-Weber-Rendu Syndrome: Treatment & Medication

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: May 6, 2009

Treatment

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.14
  • 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.15
  • 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.16

Surgical Care

See Medical Care above.

Consultations

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

Activity

  • Patients should restrict their activity during episodes of acute bleeding.
  • Patients with severe anemia should restrict their activity as well.

Medication

Mild forms of Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), do not require treatment. Hormone, including antiestrogen, therapy with tamoxifen for the treatment of epistaxis due to HHT has produced good responses, although its use remains controversial.17

Iron salts

Iron replacement therapy provides symptomatic relief for anemia.


Ferrous sulfate (Feosol, Fero-Gradumet)

A nutritionally essential inorganic substance.

Adult

300 mg PO qd

Pediatric

Not established

Absorption enhanced by ascorbic acid; interferes with tetracycline absorption; food and antacids impair absorption

Pregnancy

A - Fetal risk not revealed in controlled studies in humans

Precautions

GI tract upset; iron toxicity with ingestion of large amount (can be fatal, especially in children); IV administration can cause several reactions, including headaches, malaise, fever, generalized lymphadenopathy, arthralgia, and urticaria; can cause severe anaphylaxis and phlebitis at infusion site

Hormones

Estrogen therapy may be beneficial in some women with HHT and may be used to decrease the amount of bleeding. Oral contraceptives have been shown to be more effective than estrogen alone in mucosal bleeding.


Estradiol (Estrace, Climara, Dura-Estrin)

Increases synthesis of DNA, RNA, and many proteins in target tissues. Norethindrone acetate and ethinyl estradiol are options.

Adult

0.625-2 mg/d PO or transdermal patch; use lowest effective dose for long-term therapy
Ethinyl estradiol: 30 mcg PO qd
Norethindrone: 1.5 mg PO qd

Pediatric

Not established

May reduce hypoprothrombinemic effects of anticoagulants; coadministration of barbiturates, rifampin, and other agents that induce hepatic microsomal enzymes may decrease estrogen levels; corticosteroid levels may increase with concurrent ethinyl estradiol; use of ethinyl estradiol with hydantoins may cause spotting, breakthrough bleeding, and pregnancy; increase in fluid retention caused by estrogen intake may reduce seizure control

Documented hypersensitivity; thrombophlebitis; undiagnosed vaginal bleeding; coronary artery disease; active liver disease; history of stroke; carcinoma of the breast; ophthalmic vascular disease; pregnancy

Pregnancy

X - Contraindicated; benefit does not outweigh risk

Precautions

Caution in hepatic impairment, migraines, seizure disorders, cerebrovascular disorders, breast cancer, and thromboembolic disease

Antifibrinolytics

Used to enhance hemostasis when fibrinolysis contributes to bleeding.18


Aminocaproic acid (Amicar)

Inhibits fibrinolysis via inhibition of plasminogen activator substances and, to lesser degree, through antiplasmin activity. Used to prevent or treat mucosal bleeding caused by bleeding disorders or trauma.

Adult

3.5 g IV initially, then 1 g/h until bleeding stops; not to exceed 8 h treatment duration
3.5 g/dose PO tid/qid for 3-4 d
Topical: Insert gauze soaked in a 10% solution of aminocaproic acid into nasal cavity

Pediatric

50-100 mg/kg IV infused over 30-60 min, then 30-50 mg/kg/h until bleeding stops; not to exceed 8 h treatment duration
50 mg/kg/dose PO tid/qid for 3-4 d
Topical: Administer as in adults

Coadministration with estrogens may cause increase in clotting factors, leading to hypercoagulable state

Documented hypertensively; evidence of active intravascular clotting process; disseminated intravascular coagulation (DIC) because aminocaproic acid can be fatal in patients with DIC, differentiate between hyperfibrinolysis and DIC

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Reduce dose in cardiac, renal, or hepatic disease

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
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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. 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].

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

  16. 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].

  17. 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].

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

  19. Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. Aug 2000;47(3-4):81-90. [Medline].

  20. 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].

  21. Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA. Screening in hereditary hemorrhagic telangiectasia patients. Chest. Aug 2000;118(2):566-7. [Medline].

  22. 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].

  23. 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].

  24. 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].

  25. Morphet JA. Osler-Weber-Rendu syndrome. CMAJ. Nov 7 2006;175(10):1243. [Medline].

  26. Pau H, Carney AS, Murty GE. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. Clin Otolaryngol. Apr 2001;26(2):93-8. [Medline].

  27. Soong HK, Pollock DA. Hereditary hemorrhagic telangiectasia diagnosed by the ophthalmologist. Cornea. Nov 2000;19(6):849-50. [Medline].

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Further Reading

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Keywords

Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia, HHT, morbus Osler, Rendu-Osler-Weber syndrome, Rendu-Osler syndrome, Osler's disease, Osler disease

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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, UMDNJ-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.

Medical Editor

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.

Pharmacy Editor

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
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.

Managing Editor

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.

CME Editor

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.

 
 
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