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Can a child inherit HHT from a parent with the disease?

Yes. HHT (Hereditary Hemorrhagic Telangiectasia) is an autosomal dominant genetic disorder. There is usually one parent that has the affected gene (Aa) and one that does not (aa). That results in 4 possible combinations: 2 are normal (aa) and two have the disorder (Aa). Genetic testing can be done in families with HHT for the genetic mutation. Over 80% of HHT cases are mutations involving the ENG or ACVRL1 genes. Older children/young adults of affected parents with HHT can also consider radiology screening for the arteriovenous malformations (AVMs) that are the hallmark of the disease (either chest x-rays looking for lung AVMs or CT scan of the head for brain AVMs). When and if to screen is somewhat controversial. While the AVMs of the brain rarely bleed, if they do, it can be fatal. In addition, brain AVMs can result in a brain abscess.
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that affects about one in 5,000 people and causes arterial blood to flow directly into the veins, creating weakened ballooned vessels that can rupture.

Children with parents who have HHT have a 50 percent chance of inheriting the disorder.

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