Impact of Hereditary Hemorrhagic Teleangiectasia on Quality of Life

Recurrence of arterio-venous malformations with life-threatening complications in a pregnant woman with hereditary teleangiectasia.

Hereditary hemorrhagic teleangiectasia (HHT) is an autosomal dominant vascular disorder with incidence of 1 in 2300, characterized by teleangiectasia, arterio-venous malformations, and aneurysms. In this article we presented a case of a 43-year-old woman, diagnosed with HHT and treated with a lobectomy at the age of 5 and with transcatheter coil closure of pulmonary feeding artery at the age of...

Hereditary hemorrhagic telangiectasia associated epistaxis in the Norwegian population. Severity, impact on the quality of life and new treatment modality

The liver in hereditary haemorrhagic teleangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal.

Hereditary haemorrhagic teleangiectasia (Rendu-Osler-Weber disease) is an inborn error of vascular structure with multiple manifestations. Its incidence is about 1-2:100 000 in the European population. The incidence of telangiectases and/or fistula formation was estimated to be 1 in 10 carriers of the Osler trait. The findings in the family reported herewith suggest a much higher incidence if a...

Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.

CONCLUSIONS Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation. OBJECTIVE HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutat...

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...