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Telangiectasic carpet

Cristiana Fernandes, Joana Braga, Marinha Silva, Rita Sevivas, Ana Sofia Barroso.

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare, autosomal dominant disorder, characterized by multiple mucocutaneous telangiectasias. These small arteriovenous malformations, result from dysplasia of systemic blood vessels and tend to have frequent bleeding, significantly reducing the quality of life of the affected people, with ferropenic anaemia being frequent findings. The diagnosis is clinical, epistaxis is usually the first manifestation of the disease, and mucocutaneous and gastrointestinal telangiectasia develop gradually over the years. Despite the evident morbidity and mortality associated with this pathology, their average life expectancy is good, especially when the diagnosis is made at an older age, with the appropriate treatment of vascular lesions and with the screening for arteriovenous malformations in different organs The authors present the case of a patient diagnosed with HHT, with multiply scattered telangiectasias and severe chronic anaemia.

Key words: Osler-Weber-Rendu syndrome, Hereditary hemorrhagic telangiectasis, Epistaxis, Gengivorrhagia, Gastrointestinal haemorrhage, Ferropenic anaemia

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