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Hereditary hemorrhagic telangiectasia

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Rendu-Osler-Weber disease

General

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, refers to a genetic condition which is characterized by arteriovenous malformations (AVMs). AVMs are abnormal connections between the arteries and veins. It typically affects the nose, lungs, brain and liver. These AVMs tend to grow bigger, making it easy to bleed or tear. It is caused by a genetic mutation inherited from one of the parents.

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Signs & symptoms

Symptoms include spontaneous nosebleeds, tiny red spots on the lips, face, tongue, inside the mouth and on the fingertips, shortness of breath, anemia, heachaches and seizures.

Diagnosis

Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include imaging tests such as ultrasound, an MRI and a CT scan as well as a special echocardiogram called a bubble study.

Treatment

Treatment may include estrogen containing medications, drugs that inhibit vessel growth such as Avastin and medications that slow the disintegration of clots. Severe nosebleeds may lead to surgical procedures such as ablation or skin graft.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

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