A Single Institution Registry of Hereditary Hemorrhagic Telangiectasia
نویسندگان
چکیده
منابع مشابه
Hereditary hemorrhagic telangiectasia/avastin.
This is the first scientific report of hereditary hemorrhagic telangiectasia (HHT) epistaxis treatment by intranasal spraying of the vascular endothelial growth factor (VEGF) inhibitor bevacizumab (Avastin). Epistaxis in patients with HHT is a morbid, mortal condition that is difficult and unpleasant to manage. Nasal telangiectasia growth is modulated by VEGF, which is elevated in HHT patients....
متن کاملHereditary Hemorrhagic Telangiectasia Management.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can in...
متن کاملA case of hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and n...
متن کاملA murine model of hereditary hemorrhagic telangiectasia.
Endoglin (CD105), an accessory protein of the TGF-beta receptor superfamily, is highly expressed on endothelial cells. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the Endoglin gene, leading to haploinsufficiency. To generate a disease model and ascertain the role of endoglin in development, we generated mice lacking 1 or both copies of the gene. Endoglin ...
متن کاملHereditary hemorrhagic telangiectasia: a new surgical approach.
Hereditary Hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a vascular anomaly characterized by multiple dilations of skin and mucosa capillaries and venules. It is an autosomal dominant disease, equally distributed between both genders and its incidence is of 1-2/100.000 inhabitants.1 Bleeding may occur in numerous places; however, epistaxis is the most common, present in 90%...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v124.21.5004.5004