Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

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Abstract

Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects approximately 1 in 5000 people. The abnormal vascular structures in HHT result from mutations in genes (most commonly endoglin or ACVRL1) whose protein products influence TGF-s superfamily signalling in vascular endothelial cells. The cellular mechanisms underlying the generation of HHT telangiectasia and arteriovenous malformations are being unravelled, with recent data focussing on a defective response to angiogenic stimuli in particular settings. For affected individuals, there is often substantial morbidity due to sustained and repeated haemorrhages from telangiectasia in the nose and gut. Particular haematological clinical challenges include the management of severe iron deficiency anaemia; handling the intricate balance of antiplatelet or anticoagulants for HHT patients in whom there are often compelling clinical reasons to use such agents; and evaluation of apparently attractive experimental therapies promoted in high profile publications when guidelines and reviews are quickly superseded. There is also a need for sound screening programmes for silent arteriovenous malformations. These occur commonly in the pulmonary, cerebral, and hepatic circulations, may haemorrhage, but predominantly result in more complex pathophysiology due to consequences of defective endothelium, or shunts that bypass specific capillary beds. This review will focus on the new evidence and concepts in this complex and fascinating condition, placing these in context for both clinicians and scientists, with a particular emphasis on haematological settings. © 2010 Elsevier Ltd.

Author-supplied keywords

  • *Rendu Osler Weber disease
  • *Rendu Osler Weber disease/di [Diagnosis]
  • *Rendu Osler Weber disease/dt [Drug Therapy]
  • *Rendu Osler Weber disease/et [Etiology]
  • *angiogenesis
  • *arteriovenous malformation
  • *diagnosis
  • *epistaxis
  • *hypoxemia
  • *iron
  • *pathophysiology
  • *screening
  • *thalidomide
  • *thrombosis
  • *transforming growth factor beta XT - arterial th
  • Rendu Osler Weber disease/dt [Drug Therapy]
  • Smad4 protein/ec [Endogenous Compound]
  • acetylcysteine/ae [Adverse Drug Reaction]
  • acetylcysteine/dt [Drug Therapy]
  • age distribution
  • antibiotic agent/dt [Drug Therapy]
  • anticoagulant agent
  • antifibrinolytic agent/dt [Drug Therapy]
  • arterial thromboembolism/si [Side Effect]
  • arteriovenous malformation
  • artery thrombosis/si [Side Effect]
  • article
  • autosomal dominant inheritance
  • bevacizumab/ae [Adverse Drug Reaction]
  • bevacizumab/dt [Drug Therapy]
  • bevacizumab/pd [Pharmacology]
  • bleeding
  • bleeding/dt [Drug Therapy]
  • bleeding/si [Side Effect]
  • capillary
  • clinical trial
  • computer assisted tomography
  • dominant inheritance
  • drug contraindication
  • drug megadose
  • drug safety
  • echocardiography
  • endocarditis/dt [Drug Therapy]
  • endoglin
  • endoglin/ec [Endogenous Compound]
  • endothelium
  • endothelium cell
  • epistaxis/dt [Drug Therapy]
  • estrogen/cb [Drug Combination]
  • estrogen/dt [Drug Therapy]
  • experimental therapy
  • gene
  • gene function
  • gene mutation
  • gene targeting
  • genetic analysis
  • genotype phenotype correlation
  • hemodynamic parameters
  • heparin/dt [Drug Therapy]
  • heterozygosity
  • histopathology
  • homozygosity
  • human
  • hypertension/si [Side Effect]
  • intestine
  • iron deficiency anemia
  • iron deficiency anemia/th [Therapy]
  • iron therapy
  • liver circulation
  • liver function test
  • lung function test
  • morbidity
  • mutation
  • nonhuman
  • nose
  • nuclear magnetic resonance imaging
  • pathogenesis
  • patient
  • placebo
  • pregnancy
  • prevalence
  • priority journal
  • progesterone/cb [Drug Combination]
  • progesterone/dt [Drug Therapy]
  • protein
  • protein alk 1/ec [Endogenous Compound]
  • proteinuria/si [Side Effect]
  • prothrombin
  • raloxifene/dt [Drug Therapy]
  • receptor protein/ec [Endogenous Compound]
  • scientist
  • screening test
  • stimulus
  • tamoxifen/ae [Adverse Drug Reaction]
  • tamoxifen/ct [Clinical Trial]
  • tamoxifen/dt [Drug Therapy]
  • telangiectasia
  • thalidomide/dt [Drug Therapy]
  • thalidomide/pd [Pharmacology]
  • thromboembolism/si [Side Effect]
  • thrombosis
  • tranexamic acid/dt [Drug Therapy]
  • transforming growth factor beta/ec [Endogenous Com
  • unclassified drug
  • unspecified side effect/si [Side Effect]
  • vein thrombosis/dt [Drug Therapy]
  • venous thromboembolism/si [Side Effect]
  • warfarin/dt [Drug Therapy]

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