Hereditary Hemorrhagic Telangiectasia

(Osler-Weber-Rendu syndrome)

Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by vascular malformations and affects both men and women.

More than 80% of patients have either mutations in the endoglin (ENG) gene, which encodes a receptor for transforming growth factor beta-1 (TGF-?1), and TGF-?3, or SMAD4 coding MADH4 gene, a protein the TGF-? signaling pathway.

Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by vascular malformations and affects both men and women. More than 80% of patients have either mutations in the endoglin (ENG) gene, which encodes a receptor for transforming growth factor beta-1 (TGF-?1), and TGF-?3, or SMAD4 coding MADH4 gene, a protein the TGF-? signaling pathway. Symptoms and signs The characteristic lesions are small red to violet telangiectasias of the face, lips, mucous membranes of the mouth and nose, fingertips and toes. Similar lesions may be present in the mucosa of the entire gastrointestinal tract and cause bleeding recurrent gastrointestinal. It can recurrent heavy nosebleeds, and in some patients can be found pulmonary arteriovenous fistulas. These fistulas can lead to a significant right-left shunt, dyspnea, fatigue, cyanosis, or polycythemia may result. However, the first clinical signs can also be brain abscesses, transient ischemic attack (TIA) or stroke. These are caused by an infected or uninfected embolism. In some families, cerebral or spinal arteriovenous malformations occur which can lead to subarachnoid hemorrhage, seizure, or paraplegia. Arteriovenous malformations in the liver can lead to liver failure and congestive heart failure (high-output failure). Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) DR P. MARAZZI / SCIENCE PHOTO LIBRARY var model = {thumbnailUrl: ‘/ – / media / manual / professional / images / m1750092-Osler-Rendu-Weber-syndrome-science- photo-library-high_de.jpg lang = en & thn = 0 & mw = 350 ‘, imageUrl’? /-/media/manual/professional/images/m1750092-osler-rendu-weber-syndrome-science-photo-library-high_de.jpg ? lang = en & thn = 0 ‘, title:’ Hereditary Hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) ‘description:’ u003Ca id = “v37895107 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eNahaufnahme of the face of a patient with multiple telangiectasia secondary to Osler- Rendu-Weber syndrome u003c / p u003e u003c / div u003e ‘credits.: ‘DR P. MARAZZI / SCIENCE PHOTO LIBRARY’ hideCredits: false

Health Life Media Team

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