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Sections Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Guidelines
- Medication
- Questions & Answers
- Media Gallery
- References
Diagnostic Considerations
The diagnosis of Osler-Weber-Rendu disease (OWRD; ie, hereditary hemorrhagic telangiectasia [HHT]) is made clinically on the basis of the Curaçao criteria, established in June 1999 by the Scientific Advisory Board of the HHT Foundation International, Inc, for the purposes of improving patient care and standardizing research. [9] These criteria are as follows:
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Epistaxis - Spontaneous and recurrent
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Telangiectases - Multiple characteristic sites (eg, lips, oral cavity, fingers, or nose)
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Visceral lesions - Gastrointestinal (GI) telangiectasia (with or without bleeding), pulmonary arteriovenous malformation (AVM), hepatic AVM, cerebral AVM, and spinal AVM
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Family history - A first-degree relative who has HHT (according to these same criteria)
The HHT diagnosis is classified as definite if three criteria are present, possible or suspected if two criteria are present, and unlikely if fewer than two criteria are present. There is no firm consensus on the number of episodes or degree of epistaxis necessary for diagnosis; according to the Curaçao criteria, nosebleeds should occur spontaneously on more than one occasion, and night-time bleeding should be considered especially suspicious. [9]
Early diagnosis of family members or confirmation with genetic testing of patients who meet the Curaçao criteria may assist in the identification of those patients who are most at risk for specific sequelae.
In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:
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Louis-Bar syndrome
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Essential telangiectasia
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Actinically damaged skin (actinic keratosis)
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Scleroderma
Differential Diagnoses
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Yaniv E, Preis M, Hadar T, Shvero J, Haddad M. Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. Laryngoscope. 2009 Feb. 119 (2):284-8. [QxMD MEDLINE Link].
Isaacs E. Aminocaproic Acid. Pediatric Drug Dosage Handbook. 8th ed. Ottawa, Canada: Winnipeg Health Sciences Center and CSHP; 1998. 161.
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. 2010 Apr. 16 (4):420-8. [QxMD MEDLINE Link].
Harvey RJ, Kanagalingam J, Lund VJ. The impact of septodermoplasty and potassium-titanyl-phosphate (KTP) laser therapy in the treatment of hereditary hemorrhagic telangiectasia-related epistaxis. Am J Rhinol. 2008 Mar-Apr. 22 (2):182-7. [QxMD MEDLINE Link].
Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. Am J Rhinol. 2007 May-Jun. 21 (3):312-5. [QxMD MEDLINE Link].
Layton KF, Kallmes DF, Gray LA, Cloft HJ. Endovascular treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. 2007 May. 28 (5):885-8. [QxMD MEDLINE Link].
de Gussem EM, Snijder RJ, Disch FJ, Zanen P, Westermann CJ, Mager JJ. The effect of N-acetylcysteine on epistaxis and quality of life in patients with HHT: a pilot study. Rhinology. 2009 Mar. 47 (1):85-8. [QxMD MEDLINE Link].
Bose P, Holter JL, Selby GB. Bevacizumab in hereditary hemorrhagic telangiectasia. N Engl J Med. 2009 May 14. 360 (20):2143-4. [QxMD MEDLINE Link].
Massoud OI, Youssef WI, Mullen KD. Resolution of hereditary hemorrhagic telangiectasia and anemia with prolonged alpha-interferon therapy for chronic hepatitis C. J Clin Gastroenterol. 2004 Apr. 38 (4):377-9. [QxMD MEDLINE Link].
Wheatley-Price P, Shovlin C, Chao D. Interferon for metastatic renal cell cancer causing regression of hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. 2005 Apr. 39 (4):344-5. [QxMD MEDLINE Link].
Lupu A, Stefanescu C, Treton X, Attar A, Corcos O, Bouhnik Y. Bevacizumab as rescue treatment for severe recurrent gastrointestinal bleeding in hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. 2013 Mar. 47 (3):256-7. [QxMD MEDLINE Link].
Shovlin CL, Jackson JE, Bamford KB, Jenkins IH, Benjamin AR, Ramadan H, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008 Mar. 63 (3):259-66. [QxMD MEDLINE Link].
Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM. 1995 Dec. 88 (12):879-87. [QxMD MEDLINE Link].
Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006 Nov. 26 (9):1040-6. [QxMD MEDLINE Link].
Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. Ann Surg. 2006 Dec. 244 (6):854-62; discussion 862-4. [QxMD MEDLINE Link]. [Full Text].
Thevenot T, Vanlemmens C, Di Martino V, Becker MC, Denue PO, Kantelip B, et al. Liver transplantation for cardiac failure in patients with hereditary hemorrhagic telangiectasia. Liver Transpl. 2005 Jul. 11 (7):834-8. [QxMD MEDLINE Link].
Mitchell A, Adams LA, MacQuillan G, Tibballs J, vanden Driesen R, Delriviere L. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia. Liver Transpl. 2008 Feb. 14 (2):210-3. [QxMD MEDLINE Link].
Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, et al. Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases. J Pediatr. 2007 Sep. 151 (3):299-306. [QxMD MEDLINE Link].
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Typical manifestations in patient with Osler-Weber-Rendu disease (ie, hereditary hemorrhagic telangiectasia) with red nodules and starry telangiectasia on cheeks.
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Close-up view of typical manifestations in patient with Osler-Weber-Rendu disease (ie, hereditary hemorrhagic telangiectasia) with red nodules and starry telangiectasia on lips.
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Close-up view of typical manifestations in patient with Osler-Weber-Rendu disease (ie, hereditary hemorrhagic telangiectasia) with red nodules and starry telangiectasia on cheeks.
Tables
Klaus-Dieter Lessnau, MD, FCCP Former Clinical Associate Professor of Medicine, New York University School of Medicine; Medical Director, Pulmonary Physiology Laboratory, Director of Research in Pulmonary Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital
Klaus-Dieter Lessnau, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, Society of Critical Care Medicine
Disclosure: Nothing to disclose.
Jesus Lanza, MD Fellow in Pulmonary and Critical Care Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital
Disclosure: Nothing to disclose.
Raghukumar D Thirumala, MD, MPH Fellow in Pulmonary Medicine, Lenox Hill Hospital, North Shore-Long Island Jewish Health System
Raghukumar D Thirumala, MD, MPH is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, Society of Critical Care Medicine, Society of Hospital Medicine
Disclosure: Nothing to disclose.
Dora E Izaguirre Anariba, MD, MPH Physician, Department of Medicine, Wyckoff Heights Medical Center
Dora E Izaguirre Anariba, MD, MPH is a member of the following medical societies: American College of Physicians, American Heart Association, American Medical Association, American Public Health Association, Colegio Medico de Honduras
Disclosure: Nothing to disclose.
Vincent Lopez Rowe, MD, FACS Professor and Chief, Division of Vascular and Endovascular Surgery, Gonda (Goldschmied) Vascular Center, University of California, Los Angeles, David Geffen School of Medicine
Vincent Lopez Rowe, MD, FACS is a member of the following medical societies: American College of Surgeons, American Heart Association, American Surgical Association, Pacific Coast Surgical Association, Society for Clinical Vascular Surgery, Society for Vascular Surgery, Society of Black Academic Surgeons, Society of Black Vascular Surgeons, Southern California Vascular Surgical Society, Western Vascular Society
Disclosure: Nothing to disclose.
Geromanta Baleviciene, MD, Head and Professor, Department of Dermatology, Vilnius University, Medical Faculty, Lithuania
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.
Richard J Cervin, MD, Consulting Staff, Department of Dermatology, Baltic-American Medical and Surgical Clinic, Lithuania
Disclosure: Nothing to disclose.
Max J Coppes, MD, PhD, MBA President, BC Cancer Agency, Vancouver
Max J Coppes, MD, PhD, MBA, is a member of the following medical societies: Alberta Medical Association, American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.
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.
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.
James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.
James F McKinsey, MD Associate Professor of Clinical Surgery, Columbia University College of Physicians and Surgeons; Site Chief, Department of Surgery, Division of Vascular Surgery, Columbia University Medical Center
James F McKinsey, MD is a member of the following medical societies: Alpha Omega Alpha and Association for Academic Surgery
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.
Arun Panigrahi, MD Fellow in Pediatric Hematology-Oncology, University of Chicago, The Pritzker School of Medicine
Arun Panigrahi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.
William H Pearce, MD Chief, Division of Vascular Surgery, Violet and Charles Baldwin Professor of Vascular Surgery, Department of Surgery, Northwestern University School of Medicine
William H Pearce, MD is a member of the following medical societies: American College of Surgeons, American Heart Association, American Surgical Association, Association for Academic Surgery, Association of VA Surgeons, Central Surgical Association, New York Academy of Sciences, Society for Vascular Surgery, Society of Critical Care Medicine, Society of University Surgeons, and Western Surgical Association
Disclosure: Nothing to disclose.
James Petros, MD Associate Professor of Surgery, Program Director, Surgical Residency Program, Department of Surgery, Boston University School of Medicine
James Petros, MD is a member of the following medical societies: American Medical Association, American Society of Colon and Rectal Surgeons, Massachusetts Medical Society, and Society of Surgical Oncology
Disclosure: Nothing to disclose.
Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan
Sharada A Sarnaik, MBBS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research
Disclosure: Nothing to disclose.
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.
Norman A Silver, MD Assistant Professor, Department of Emergency Medicine, University of Manitoba, Winnipeg, Canada
Norman A Silver is a member of the following medical societies: American Academy of Pediatrics and Canadian Medical Association
Disclosure: Nothing to disclose.
Perry A Soriano, MD, FACS Staff Surgical Oncologist, Division of General Surgery, The Everett Clinic
Perry A Soriano, MD, FACS is a member of the following medical societies: American College of Surgeons, Massachusetts Medical Society, Pancreas Club, and Society of Surgical Oncology
Disclosure: Nothing to disclose.
Kent Stobart, MD, MSc, FRCPC Department of Pediatrics, Associate Professor, Stollery Children's Hospital
Disclosure: Nothing to disclose.
Francisco Talavera, PharmD, PhD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Medscape Reference Salary Employment
Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Nothing to disclose.
Lawrence C Wolfe, MD Associate Chief for Hematology and Safety, Division of Pediatric Hematology-Oncology, Cohen Children's Medical Center
Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, and Eastern Society for Pediatric Research
Disclosure: Nothing to disclose.
Acknowledgments
The authors acknowledge valuable personal communication with Dr Robert I White Jr, medical director of Yale AVM and HHT Center, deemed an HHT Center of Excellence by the HHT Foundation International.
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Sections Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Guidelines
- Medication
- Questions & Answers
- Media Gallery
- References
