Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that leads to mucocutaneous telangiectasias, epistaxis, and gastrointestinal bleeding. Depending on the severity and manifestation of the disease, various therapeutic modalities have been used, from local bleeding control to surgery or concomitant drug therapy. Several articles under review have presented guidelines f...

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...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT. The present case study revealed the molecular diagnosis in a family exhibiting the clinical features of HHT disease. The coding exon and flanking intronic regions ...

Hereditary hemorrhagic telangiectasia (HHT) is associated with arteriovenous malformation in multiple organs. The association of HHT with primary malignancy has rarely been reported. We describe the case of a 68-year-old man with gastric carcinoma who presented with abdominal fullness and cramping pain. Radiographic examination showed multiple pulmonary nodules and an osteolytic cervical spine ...

conclusion the involved liver with hht typically shows vascular shunting and biliary diseases. also, arteriovenous shunts may be vulnerable to biliary diseases. results (i) three types of shunting were found in the livers, including arteriovenous (hepatic artery to hepatic vein) in 6 cases, arterioportal (hepatic artery to portal vein) in 2 cases, and portal venous (portal vein to hepatic vein)...

BACKGROUND: Different institutions use different grading systems for hereditary haemorrhagic telangiectasia (HHT)-associated epistaxis. It is important to have a universal, standardized system compare and evaluate the effectiveness of treatment options. We introduced “Intensity, Frequency need Blood Transfusion” (IFT) HHT-associated epistaxis in 2008. Hoag et al. proposed “Epistaxis Severity Sc...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visc...

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations. The efficacy of traditional treatments for HHT is very limited. The aim of this study was to investigate the therapeutic role of thalidomide in HHT patients and the effect in FLI-EGFP transgenic zebrafish mod...

A 41-year-old woman with a history of recurrent epistaxis presented with left hemiplegia, right gaze deviation, and dysarthria. Physical examination confirmed skin and lip telangiectasia (figure 1). Her son had pulmonary arteriovenous malformation (AVM). Her head CT and cerebral angiography revealed right parietal hemorrhage with parasagittal AVM (figure 2). Hereditary hemorrhagic telangiectasi...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder involving the abnormal communication of vascular structures. HHT typically presents with recurrent epistaxis and telangiectasis of the nasal and buccal mucosa, tongue, and lips. More serious manifestations of this disease include cerebral, pulmonary, gastrointestinal, and hepatic arteriovenous malformations. T...