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Hereditary haemorrhagic telangiectasia.

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Hereditary haemorrhagic telangiectasia (HHT) is an inherited vascular disorder. Early diagnosis and management of bleeding, anemia, and arteriovenous malformations improve patient quality of life and survival.

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Area of Science:

  • Genetics and molecular biology
  • Vascular biology
  • Medical genetics

Background:

  • Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia.
  • Pathogenic variants in BMP signaling pathway genes (ENG, ACVRL1, SMAD4, GDF2) cause HHT.
  • HHT manifests with epistaxis, gastrointestinal bleeding, and arteriovenous malformations (AVMs) in visceral organs.

Purpose of the Study:

  • To summarize the genetic basis, clinical manifestations, and management strategies for HHT.
  • To highlight the complications associated with AVMs in different organs.
  • To discuss current and emerging therapeutic approaches for HHT.

Main Methods:

  • Review of genetic causes and clinical presentations of HHT.
  • Analysis of complications arising from pulmonary, hepatic, and central nervous system AVMs.
  • Discussion of management principles including bleeding control, iron deficiency treatment, AVM screening, and genetic counseling.

Main Results:

  • HHT is primarily caused by variants in ENG and ACVRL1.
  • Adults commonly experience epistaxis and GI bleeding, leading to anemia.
  • AVMs cause significant complications, including stroke, cerebral abscess, and high cardiac output.

Conclusions:

  • HHT management requires a multidisciplinary approach focusing on symptom control and AVM treatment.
  • Screening and management of AVMs and anemia are crucial for improving outcomes.
  • Novel therapies, including antiangiogenic agents, are under investigation for HHT.