ABC Medical Center > Diseases > Hereditary Hemorrhagic Telangiectasia

What is hereditary hemorrhagic telangiectasia?

11 December 2025

It is a genetic condition characterized by the development of arteriovenous malformations (AVMs) that, over time, can enlarge, rupture, and cause excessive bleeding, especially from the nose. This can lead to severe health problems.

Hereditary hemorrhagic telangiectasia is inherited and is one of the autosomal dominant disorders. If one parent has it, each child has a 50% chance of inheriting it. It is also known as Osler-Weber-Rendu disease.

Among the organs most affected by hereditary hemorrhagic telangiectasia are the brain, lungs, liver, and nose. Constant hemorrhages in the nose and the intestinal tract can cause severe iron-deficiency anemia, posing a risk not only to the person’s health but also their life.

Signs and symptoms Hereditary Hemorrhagic Telangiectasia

  • Strokes (Cerebrovascular accidents).
  • Anemia.
  • Enlargement of the liver.
  • Seizures.
  • Headache (migraine).
  • Shortness of breath.
  • Frequent, even daily, nosebleeds, especially in children.
  • Pulmonary hypertension.
  • Heart failure.
  • Red spots (telangiectasias) on the face, fingers, lips, and tongue.
  • Bleeding in the gastrointestinal tract.

Diagnosis and treatment Hereditary Hemorrhagic Telangiectasia

After analyzing your symptoms and clinical history, the doctor will perform a physical examination and request a series of tests to rule out other conditions and confirm the diagnosis, such as:

  • Blood tests.
  • Genetic tests.
  • Echocardiography.
  • Bubble study (contrast echocardiography).
  • Magnetic Resonance Imaging (MRI).
  • Computed Tomography (CT scan).

The treatment plan will depend on the cause and severity of the case, but it usually includes:

  • Medications that inhibit blood vessel growth and slow the breakdown of clots.
  • Surgical procedures to treat bleeding.
  • Blood transfusions or iron infusions.
  • Intravenous iron replacement treatments.
  • Hormone therapy.
  • Liver transplant.

In the Department of Internal Medicine at Centro Médico ABC, we provide medical care services with the highest quality and safety, from prevention, diagnosis, timely treatment, and follow-up for infectious, respiratory, endocrine, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies—covering both chronic-degenerative conditions and acute cases—through a comprehensive and multidisciplinary model.

Related centers and departments Hereditary Hemorrhagic Telangiectasia

Internal medicine
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • asociacionhht.org
  • fesemi.org
  • nih.gov
  • mayoclinic.org
  • medlineplus.gov
  • msdmanuals.com
  • middlesexhealth.org
  • medigraphic.com
  • Guzmán-López A, Treviño-Montemayor ÓR, Trejo-Guzmán EJ, et al. Telangiectasia hemorrágica hereditaria durante el embarazo: Reporte de caso. Ginecol Obstet Mex. 2022;90(07):623-628.
  • Fajardo-Rivero JE, Rangel-Rivera DA, Sarmiento-Villamizar DF, et al. Malformaciones arteriovenosas pulmonares asintomáticas en una mujer con síndrome de Osler-Weber-Rendu y anemia severa. Med Int Mex. 2021;37(1):128-134.
  • González EM, Sosa EM, Pérez AND. Telangiectasia hemorrágica hereditaria en una gestante. MediSan. 2018;22(01):65-70.

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