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Osler-Weber-Rendu Disease
Hereditary Hemorrhagic Telangiectasia

  • General considerations
    • Also known as hereditary hemorrhagic telangiectasia (HHT) and Rendu-Osler-Weber syndrome
    • It is a disease characterized by mucosal and cutaneous telangiectasias and arteriovenous malformations (AVMs)
    • Oddly enough, Osler-Weber-Rendu Disease (OWRD) was first described by Sutton in 1864 but, alas, Sutton’s name is not on the disease
      • The disease is named after Henri Rendu (1896), Sir William Osler (1901) and Frederick Parks Weber (1907) who described various aspects of the syndrome in the years cited
      • Pronounced OHz-ler, ren-DYU, and VAY-ber (Germanic pronunciation of his name)
    • It is autosomal dominant with variable penetrance
      • Most frequent cause maps to the long arm of chromosome 9
    • Affects both sexes evenly
    • May present at any age but most commonly in third decade
      • Pulmonary AVMs can bleed in early childhood
      • GI bleeds typically occur later, in 4th-5th decades
  • Classical triad
  • Manifestations of disease are secondary to bleeding from these AVMs
  • By the numbers
    • Overall, 60% of patients with pulmonary AVMs have OWRD
    • 20% of patients with OWRD have a pulmonary AVM
  • Imaging findings
    • Pulmonary AVMs may appear as a solitary or multiple masses with thick, rope-like densities (vessels) leading back to the hilum
      • CT is best as demonstrating these lesions
    • Hepatic AVMs appear as large pools of contrast with intervening enlarged hepatic vessels
    • CNS AVMs may be shown better on MRI
  • Clinical findings
    • Epistaxis
    • Fatigue
    • Dyspnea on exertion
    • Cyanosis
    • Clubbing
    • Polycythemia
    • Neurologic signs and symptoms from stroke, brain abscess or TIA
  • Complications
    • Risk of hemorrhage from nasal mucosa
      • Very common (50-80%)
    • Pulmonary hemorrhage
      • May be life threatening
    • High output cardiac failure
      • Uncommon, from large left-right shunt
    • Stroke
      • Hemorrhagic strokes are secondary to cerebral AVMs
      • Ischemic strokes are secondary to pulmonary AVMs
    • Migraines
      • Mechanism is unknown but they are frequently associated with pulmonary AVMs
    • Paradoxical emboli
      • Emboli arising from right side of body pass unfettered through the lung AVM to the left-sided circulation
    • Brain abscesses
      • Normal pulmonary capillary filtering mechanism is not present in those with pulmonary AVMs
  • Pulmonary involvement
    • Probably the most significant in terms of its consequences
    • Pulmonary AVMs produce right-to-left shunts which allow for emboli originating from the venous system to reach systemic organs, especially the brain
    • Most common (50-75%)  in posterior lung bases
    • About 36% of AVMs are multiple and 50% bilateral
  • Hepatic involvement
    • Found in 8-31% of patients with OWRD
    • May cause right upper quadrant pain
    • Hepatomegaly
    • Jaundice
    • Symptoms of high-output cardiac failure are most common with large hepatic AVMs
      • From large left-to-right shunt between hepatic arteries and veins and between portal vein and hepatic vein
    • Bleeding from esophageal varices
      • May be a cause of atypical cirrhosis
  • Treatment
    • Skin grafts to replace the nasal mucosa can reduce the incidence of epistaxis
    • Embolization or ligation may be used on pulmonary or intrahepatic AVMs
    • GI hemorrhage may require resection of the affected bowel
  • Prognosis
    • Excellent if bleeding is controlled
      • 90% survive

Osler-Weber-Rendu Disease. These two contrast-enhanced, axial CT scans
of the upper abdomen show multiple AVMs (red arrows) in an enlarged liver
also containing numerous dilated blood vessels. The stomach is fluid-filled.
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Osler-Weber-Rendu Disease eMedicine Perry A Soriano, MD with James Petros, MD and  James F McKinsey, MD, FACS

Osler-Weber-Rendu Disease  National Center for Biotechnology Information Victor McKusick, MD Johns Hopkins University