Hereditary hemorrhagic telangiectasia: children need screening too
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant blood vessel disorder characterized by the presence of arteriovenous malformations (AVMs), epistaxis, and mucocutaneous telangiectases. AVMs are present in lungs, brain, liver, and spine. Children and adults share the same manifestations, with epistaxis and skin telangiectases being the most common. Parents often seek medical attention for their children after an adult in the family is diagnosed. There is debate whether manifestations of HHT are present at birth or develop after puberty, thus making recommendations for evaluation or screening of children in families with HHT uncertain. In the authors' pediatric HHT center, potentially life-threatening manifestations of HHT have been identified in asymptomatic children under 12 years of age. Treatments for HHT include embolization and surgery, laser, and hormone therapy. It is imperative for nurses and other health professionals to recognize this disease and become familiar with evaluation and treatment options.