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Vascular · Autosomal dominantICD-10 I78.0 / OMIM 187300, 600376

Hereditary haemorrhagic telangiectasia

HHT · Osler-Weber-Rendu syndrome · Osler's disease

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal-dominant systemic vascular disorder characterised by mucocutaneous telangiectasia, recurrent epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations (pulmonary, hepatic, cerebral). UK prevalence ~1:5000-8000. Cutaneous telangiectases are a key diagnostic clue and a skin-oncology DDx for solar telangiectasia, CREST, photo-distributed mastocytosis and ataxia telangiectasia. Diagnosis follows the Curaçao criteria; multidisciplinary surveillance is essential.

CurrentLast reviewed 16 May 2026
Clinical image of Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia. Image sourced from DermNet New Zealand. Used under CC BY-NC-ND 4.0. No endorsement implied.

Genetics

  • Autosomal dominant; high penetrance, variable expression.
  • Mutations in TGF-β pathway components:
    • ENG (endoglin) — chromosome 9 → HHT1, pulmonary AVM more common.
    • ACVRL1 (ALK1) — chromosome 12 → HHT2, hepatic AVM more common.
    • SMAD4 → juvenile polyposis-HHT overlap syndrome.
    • GDF2 (BMP9), rare.
  • Mutations cause loss of vascular integrity → dilated capillaries / AVMs.

Clinical features

  • Mucocutaneous telangiectasia:
    • Pinpoint to small punctate red-purple papules with branching vessels.
    • Sites: lips, tongue, nasal mucosa, fingertips, periungual, oral palate.
    • Develop progressively from childhood through adulthood.
  • Epistaxis: recurrent; most common presenting feature; severity variable.
  • GI bleeding: usually after 4th decade; often occult; iron-deficiency anaemia.
  • Pulmonary AVM: dyspnoea, haemoptysis, cyanosis; paradoxical embolism risk (stroke, cerebral abscess); migraine.
  • Cerebral AVM: ~10%; risk of haemorrhage / focal deficit.
  • Hepatic AVM: variable presentations from asymptomatic to high-output cardiac failure or biliary disease.
  • Spinal AVM rare; cord ischaemia.

Curaçao diagnostic criteria

Diagnosis based on ≥3 of 4 criteria (definite); 2 (possible); <2 (unlikely):

  1. Spontaneous, recurrent epistaxis.
  2. Mucocutaneous telangiectasia (typical sites).
  3. Visceral involvement (pulmonary, hepatic, cerebral, spinal AVM; GI telangiectasia).
  4. First-degree relative meeting criteria.

Workup and surveillance

  • Genetic testing: ENG, ACVRL1, SMAD4 panel via NHS Clinical Genetics.
  • Pulmonary AVM screen:
    • Contrast (bubble) echocardiogram every 5-10 years.
    • CT pulmonary angiography if positive screen.
  • Cerebral AVM screen: contrast MRI / MRA at baseline.
  • Hepatic AVM: USS / contrast CT if symptomatic, cardiac failure, abnormal LFT.
  • Iron / anaemia surveillance: FBC, ferritin annually.
  • Stroke / embolism prophylaxis: dental antibiotic prophylaxis for those with pulmonary AVM (paradoxical bacteraemia / cerebral abscess risk).

Management

  • Epistaxis:
    • Conservative: humidification, saline irrigations, nasal emollients.
    • Topical tranexamic acid; oestrogen / propranolol nasal sprays.
    • Endoscopic laser (KTP, Nd:YAG); coblation; septodermoplasty; nasal closure (Young procedure).
    • Bevacizumab (intranasal / IV) for severe disease — emerging evidence.
  • Cutaneous telangiectases: pulsed dye laser, intense pulsed light (cosmetic).
  • Pulmonary AVM: trans-catheter coil embolisation (interventional radiology).
  • Cerebral AVM: neurosurgical or endovascular treatment; risk-benefit individualised.
  • GI bleeding: endoscopic argon plasma coagulation; iron / transfusion; bevacizumab.
  • High-output cardiac failure (hepatic AVM): diuretics, salt restriction, bevacizumab, liver transplant in severe cases.
  • Multidisciplinary: HHT specialist centres (UK: BroomweelI / Bristol / Edinburgh networks).

References

  1. Faughnan ME et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020;173:989-1001.
  2. Shovlin CL et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Curaçao criteria). Am J Med Genet. 2000;91:66-67.
  3. Al-Samkari H et al. An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study. Haematologica. 2021;106:2161-2169.
  4. British Society of Haematology. Guidelines for the management of HHT. London: BSH; 2022.

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