Overview

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is an inherited disorder that causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins. The most common locations affected are the nose, lungs, brain and liver.

These AVMs may enlarge over time and can bleed or rupture, sometimes causing catastrophic complications.

Spontaneous and unprovoked nosebleeds, sometimes on a daily basis, are the most common feature. Persistent bleeding from the nose and the intestinal tract can result in severe iron deficiency anemia and poor quality of life.

Also known as Osler-Weber-Rendu disease, hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that you inherit from your parents. Its severity can vary greatly from person to person, even within the same family.

If you have HHT, you may want to have your children checked for the disease because they can be affected even if they're not experiencing any symptoms.

Symptoms

Signs and symptoms of HHT include:

  • Nosebleeds, sometimes on a daily basis and often starting in childhood
  • Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue and inside surfaces of the mouth
  • Iron deficiency anemia
  • Shortness of breath
  • Headaches
  • Seizures

Causes

HHT is a genetic disorder you inherit from your parents. It is an autosomal dominant disorder, which means that if one of your parents has HHT, you have a 50 percent chance of inheriting it. If you have HHT, each of your children has a 50 percent chance of inheriting it from you.

Hereditary hemorrhagic telangiectasia care at Mayo Clinic

Dec. 28, 2022

Living with hereditary hemorrhagic telangiectasia?

Connect with others like you for support and answers to your questions in the Blood Cancers & Disorders support group on Mayo Clinic Connect, a patient community.

Blood Cancers & Disorders Discussions

naiviv
Immune Thrombocytopenia Purpura (ITP): What helps?

155 Replies Tue, Mar 19, 2024

rhawk314
Mast Cell Activation Syndrome: What treatments help you?

30 Replies Mon, Mar 18, 2024

cindylb
Anyone have Cutaneous T Cell Lymphoma?

148 Replies Mon, Mar 18, 2024

See more discussions
  1. Kitchens CS, et al., eds. Hereditary hemorrhagic telangiectasia. In: Consultative Hemostasis and Thrombosis. 4th ed. Philadelphia, Pa.: Elsevier; 2019. https://www.clinicalkey.com. Accessed Jan. 14, 2019.
  2. Chovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). https://www.uptodate.com/contents/search. Accessed Jan. 14, 2019.
  3. Ferri FF. Osler-Rendu-Weber syndrome. In: Ferri's Clinical Advisor 2019. Philadelphia, Pa.: Elsevier; 2019. https://www.clinicalkey.com. Accessed Jan. 14, 2019.
  4. Myers EN, et al., eds. Surgical management of hereditary hemorrhagic telangiectasia. In: Operative Otolaryngology Head and Neck Surgery. 3rd ed. Philadelphia, Pa.: Elsevier; 2018. https://www.clinicalkey.com. Accessed Jan. 18, 2019.
  5. Kühnel T, et al. Hereditary hemorrhagic telangiectasia. Otolaryngologic Clinics of North America. 2018;51:237.
  6. AskMayoExpert. Hereditary hemorrhagic telangiectasia. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2018.
  7. Chovlin C. Management of hereditary hemorrhagic telangiectasia. https://www.uptodate.com/contents/search. Accessed Jan. 14, 2019.
  8. National Library of Medicine. Hereditary hemorrhagic telangiectasia. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia. Accessed Jan. 22, 2019.
  9. North American HHT Centers of Excellence. CureHHT. https://directory.curehht.org/hht-centers. Accessed Jan. 16, 2019.
  10. Gossage JR. Therapeutic approach to adult patients with pulmonary arteriovenous malformations. https://www.uptodate.com/contents/search. Accessed Jan. 22, 2019.
  11. Singer RJ, et al. Brain arteriovenous malformations. https://www.uptodate.com/contents/search. Accessed Jan. 22, 2019.
  12. Iyer VN, et al. Effect of center volume on outcomes in hospitalized patients with hereditary hemorrhagic telangiectasia. Mayo Clinic Proceedings. 2016;91:1753.
  13. Morrow ES Jr. Allscripts EPSi. Mayo Clinic, Rochester, Minn. Oct. 12, 2018.

Related

Products & Services