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Esophageal Varices-II: Clinical Features and Management01:28

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Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
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[Hereditary hemorrhagic telangiectasia].

A Parrot1, M Barral2, X Amiot3

  • 1Service de pneumologie, centre de compétence de la maladie de Rendu-Osler, hôpital Tenon, AP-HP, 75020 Paris, France.

Revue Des Maladies Respiratoires
|April 16, 2023
PubMed
Summary

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a rare vascular disorder causing bleeding and arteriovenous malformations. Early diagnosis and multidisciplinary care, including anti-angiogenic therapies, improve patient outcomes and life expectancy.

Keywords:
Bevacizumab embolizationBévacizumabEmbolisationHereditary hemorrhagic telangiectasiaHypertension pulmonaireMaladie de Rendu-OslerMalformations artérioveineuses pulmonairesPulmonary arteriovenous malformationPulmonary hypertensionVaso-occlusion

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Area of Science:

  • Vascular Medicine
  • Genetics
  • Pathophysiology of Angiogenesis

Context:

  • Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant vascular disorder.
  • Affects approximately 1 in 5,000 individuals.
  • Characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in various organs.

Purpose:

  • To outline the clinical and molecular diagnostic criteria for HHT.
  • To highlight the potential complications arising from AVMs and shunts.
  • To review current and emerging therapeutic strategies for HHT management.

Summary:

  • HHT presents with bleeding symptoms and AVMs in the lungs, liver, and nervous system, leading to significant morbidity.
  • Clinical diagnosis relies on Curaçao criteria, while molecular diagnosis involves genetic analysis of key genes (ENG, ACVRL1, SMAD4, GDF2).
  • Advances in interventional radiology and anti-angiogenic treatments, like bevacizumab (anti-VEGF), are improving patient management.

Impact:

  • Multidisciplinary management and improved therapies can lead to normal life expectancy for HHT patients.
  • Anti-angiogenic treatments show efficacy in managing bleeding and severe organ damage.
  • Ongoing research into novel anti-angiogenic agents promises further therapeutic advancements for HHT.