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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.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.