Hereditary haemorrhagic telangiectasia

Dr Dan J Bell and Dr Donna D'Souza et al.

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.

Worldwide prevalence ~1.5 per 100,000. Wide geographic variability with much higher incidence in certain regions, e.g. 1 in 200 in Dutch Antilles, 1 in 3500 in France.

The classic triad on presentation is:

  1. epistaxis
  2. multiple telangiectasias
  3. positive family history

It is an autosomal dominant multi-organ vascular dysplasia, characterised by multiple arteriovenous malformations (AVMs) that lack an intervening capillary network. Telangiectasias (small superficial AVMs) are particularly common. Mutations have been found in one of several genes (three known so far). De novo mutations are rare, almost all have a first degree relative affected.

Hereditary haemorrhagic telangiectasia can involve multiple organ systems. The spectrum includes:

  • nasal: 90%
    • telangiectasias of nasal mucosa
    • complications: recurrent epistaxis
  • skin and mucosal membranes: 90%
    • telangiectasias of skin, oral cavity, conjunctivae
    • complications: recurrent bleeding
  • pulmonary: 20%
    • pulmonary AVMs
      • 36% of patients with solitary pulmonary AVM have HHT
      • 57% of patients with multiple pulmonary AVMs have HHT
      • complications
        • pulmonary haemorrhage, haemoptysis (less common)
        • complications of shunting (more common): paradoxical emboli (e.g. stroke), septic emboli (e.g. cerebral abscess), hypoxaemia, high-output cardiac failure
  • CNS: 5-10%
  • gastrointestinal tract: 20-40%
    • AVMs or angiodysplasia in stomach, small bowel or large bowel
    • complications: recurrent GI bleeding
  • liver: 8-31%
    • symptomatic liver involvement in HHT is uncommon but does occur; it has been attributed to three distinct clinical subtypes and is believed to be a consequence of the predominant hepatic shunt pattern 2
    • high-output cardiac failure
    • shunting that increases cardiac preload
    • typically arteriovenous or portovenous shunts
    • portal hypertension
      • increased flow into the portal system (arterioportal shunt)
      • hepatic anatomic abnormalities leading to increased intrahepatic resistance
    • biliary disease
      • shunting of the blood away from the peribiliary plexus (arteriovenous or arterioportal shunting)
      • extensive arteriovenous shunting lead to biliary necrosis and bile leak
      • complications: hepatomegaly, right upper quadrant pain, high-output cardiac failure, portal hypertension, mesenteric angina from steal phenomenon

The diagnosis is a clinical diagnosis and based on the presence of 3 out of 4 of the following diagnostic criteria (Curacao criteria) is required:

  • recurrent spontaneous epistaxis
  • multiple mucocutaneous telangiectasias
  • visceral AVMs
  • first degree relative with HHT
  • lung
    • chest x-ray: well-circumscribed mass (may be lobulated) with enlarged draining vein
    • CT: well-circumscribed vascular mass with enhancing feeding artery and draining vein
    • contrast echocardiography
      • presence of contrast bubbles in the left atrium confirms presence of a shunt
      • characteristically, this occurs late (after several cardiac cycles), indicating a pulmonary shunt rather than intracardiac shunt
  • CNS
    • MR: cerebral and cerebellar AVMs typically in superficial locations
  • gastrointestinal tract
    • CT/CTA
    • conventional angiography
    • endoscopy
    • pill-cam (capsule endoscopy)
    • nuclear medicine GI bleed study for active bleeding
  • liver
    • CT/CTA
    • MRI
    • conventional angiography
    • ultrasound
  • lung
    • embolisation; recanalisation occurs in up to 20% post embolisation
    • surgical resection
  • CNS
    • embolisation
    • surgical resection
    • stereotactic radiosurgery
  • gastrointestinal tract
    • embolisation
    • surgical resection
    • endoscopic ablation/electrocautery
  • liver
    • embolisation
    • surgical resection
    • liver transplantation
  • most patients have a normal life expectancy
  • 10% die of complications: usually stroke, cerebral abscess or massive haemorrhage
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Article information

rID: 1444
Sections: Pathology, Syndromes
Synonyms or Alternate Spellings:
  • Hereditary haemorrhagic telangiectasia (HHT)
  • HHT
  • Osler-Weber-Rendu syndrome
  • Hereditary hemorrhagic telangiectasia

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Cases and figures

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    Figure 1: gross pathology
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    CXR
    Case 1: with large pulmonary AVM
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    Case 1: CT
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    Case 2: with multiple pulmonary AVMs
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    Case 2: CT
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    Case 3: HHT - liver
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    Case 3: HHT - liver
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    Case 4: with multiple coiled PAVM's
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    Case 5
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    Case 6: pulmonary AVM with hepatic haemangioma
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