Hereditary Hemorrhagic Telangiectasia (Rendu–Osler–Weber Disease)

Effect of vascular endothelial growth factor on functional recovery after hepatectomy in lean and obese mice

“…Endoglin (CD105, transforming growth factor-b receptor-3) is an integral membrane glycoprotein mainly expressed on endothelial cells [27]. The gene for endoglin is mutated in patients with hereditary hemorrhagic telangiectasia, a disease with development of vascular malformations in the gastrointestinal tract, including the liver [28]. Endoglin contributes to angiogenesis by preventing apoptosis in hypoxic endothelial cells [29].…”

An interesting case of cerebral abscess

“…It is of autosomal dominant inheritance. The prevalence varies and may range from 1/3500 to 1/5000 1. Two chromosomal sites have been identified: in HHT1, mutations at chromosome 9 alter the protein endoglin and in HHT2, mutations at chromosome 12 alter the protein activine or activin receptor-like kinase 1 (ALK-1) 1.…”

“…The prevalence varies and may range from 1/3500 to 1/5000 1. Two chromosomal sites have been identified: in HHT1, mutations at chromosome 9 alter the protein endoglin and in HHT2, mutations at chromosome 12 alter the protein activine or activin receptor-like kinase 1 (ALK-1) 1. Clinical manifestations characterised by recurrent epistaxis and telangiectases on the face, hands and oral cavity, visceral arteriovenous malformations and positive family history.…”

Hereditary haemorrhagic telangiectasia

“…Besides implementation of local measures, including application of local pressure and ice, therapeutic options consisting of high‐dose antifibrinolytic agents, such as administration of tranexamic acid at 1–2 g three times daily either orally or intravenously at the time of epistaxis [44], or combined oestrogen–progesterone preparations [45], have shown efficacy. If these measures are insufficient and the frequency and duration of episodes impair the patient’s quality of life, a photocoagulation laser or a septal mucosal dermoplasty may be recommended [45,46]. Embolization of the external carotid artery branches has been performed for short‐term relief of symptoms, although it is ineffective for long‐term management and can lead to complications related to ischemia [47].…”