Hereditary hemorrhagic telangiectasia
What is it?
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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Hereditary hemorrhagic telangiectasia.
Additional names
This group contains additional names:
- Rendu-Osler-Weber disease
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.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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