Research on potential biomarkers in hereditary hemorrhagic telangiectasia

Research on potential biomarkers in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder, involving mutations in two predominant genes known as Endoglin (ENG; HHT1) and activin receptor-like kinase 1 (ACVRL1/ALK1; HHT2), as well as in some less frequent genes, such as MADH4/SMAD4 (JP-HHT) or BMP9/GDF2 (HHT5). The diagnosis of HHT patients currently remains at the clinical level, according to the "Cu...

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...

Paradoxical systemic embolization in hereditary hemorrhagic telangiectasia.

A 53-year-old man presented with sudden onset left-sided weakness. His medical history included hereditary hemorrhagic telangiectasia with recurrent epistaxis. On examination, he was hypoxemic at rest and had left-sided flaccid hemiparesis. He was noted to have multiple lower lip telangiectasias (Figure 1). Computed tomography of chest revealed bilateral segmental and subsegmental pulmonary emb...

Genotype – phenotype relationship in Hereditary Hemorrhagic Telangiectasia