Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

Morphogenesis of the vascular system is strongly modulated by mechanical forces from blood flow. Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal-dominant disease in which arteriovenous malformations and telangiectasias accumulate with age. Most cases are linked to heterozygous mutations in Alk1 or Endoglin, receptors for bone morphogenetic proteins (BMPs) 9 and 10. Evidenc...

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....

Hereditary 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...

Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia.

Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast...