Overview

Hereditary Hemorrhagic Telangiectasia is a rare genetic disorder that affects blood vessels. It causes abnormal connections between arteries and veins, known as arteriovenous malformations, and small widened blood vessels called telangiectasias. These abnormal vessels are fragile and prone to bleeding.

The condition is inherited and usually passed from parent to child. It can affect multiple organs, including the nose, skin, lungs, brain and liver. Symptoms may range from mild to severe and often worsen with age. Early diagnosis and regular monitoring help manage complications and reduce health risks.

Symptoms

Symptoms of hereditary hemorrhagic telangiectasia vary depending on which organs are involved and how severe the blood vessel abnormalities are.

Common symptoms include:

  • Frequent nosebleeds

  • Small red or purple spots on the skin or inside the mouth

  • Easy or unexplained bleeding

  • Fatigue due to anemia

  • Shortness of breath

  • Headaches

  • Dizziness

When internal organs are affected, symptoms may be more serious and require urgent medical care.

Causes

Hereditary hemorrhagic telangiectasia is caused by genetic mutations that affect the normal development of blood vessels.

Key causes include:

  • Inherited mutations affecting blood vessel formation

  • Abnormal signaling in blood vessel walls

  • Fragile blood vessels that rupture easily

The disorder follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the condition.

Risk factors

Factors that increase the risk of hereditary hemorrhagic telangiectasia include:

  • Having a parent with the condition

  • Family history of frequent nosebleeds or vascular malformations

  • Certain genetic mutations passed through generations

Men and women are equally affected, and symptoms may appear at any age.

Complications

Hereditary hemorrhagic telangiectasia can cause serious complications, especially when internal organs are involved.

Possible complications include:

  • Chronic anemia from repeated bleeding

  • Stroke or brain abscess due to lung arteriovenous malformations

  • Heart failure from abnormal blood flow

  • Internal bleeding in the lungs, brain or liver

  • Severe infections related to abnormal circulation

Regular screening helps detect complications early.

Prevention

There is no way to prevent hereditary hemorrhagic telangiectasia because it is inherited. However, complications can often be reduced with proper care.

Preventive measures include:

  • Genetic counseling for affected families

  • Regular screening for organ involvement

  • Early treatment of nosebleeds and anemia

  • Avoiding medications that increase bleeding risk

  • Ongoing follow-up with specialists

Early diagnosis and lifelong monitoring play an important role in maintaining health and preventing serious outcomes.

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