Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia
نویسندگان
چکیده
منابع مشابه
Hereditary hemorrhagic telangiectasia: diagnosis and management.
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary h...
متن کاملHereditary 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 کاملSeverity score for hereditary hemorrhagic telangiectasia
BACKGROUND A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Here, we propose the first known HHT severity score, the HHT-score. METHODS Demographics and disease characteristics were collected for the first 525 HHT patients recruited to the HHT Project of the Brain Vascular Malforma...
متن کاملGenetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and hemorrhage. The pathogenesis regarding heterogeneity of vascular malformations in patients with HHT has been obscure, although it has become possible to partially explain the pathogenesis from the identification of two distinct genes, endoglin and ALK-1. Endoglin and ALK-1 are t...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2012
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2011.56