Table 1

Clinical features of HHT

SiteIncidenceType of lesionPresentation patternTreatment regimes
Nasal mucosa>90%TelangiectasiaNose bleeds are usually the first manifestation of HHT, frequently commencing in childhood1) Routine therapy: packing, humidification, treatment with iron and transfusions when needed. Oestrogen/progesterone therapy proposed (in view of possible induction of squamous metaplasia) but no benefit in only controlled trial.15 2) Laser treatment successful. Argon and KTP lasers which use wavelengths maximally absorbed by haemoglobin16 17 often preferred to Nd-YAG18which carries a higher risk of cartilage absorption and septal perforation. 3) Surgery, such as septal dermoplasty to replace thin nasal mucosa with a tougher skin graft, is successful in expert hands,19 though vessels regrow. 4) Other. Therapeutic embolisation may be difficult because of extensive anastomoses; cauterisation has only a limited role.17
Mucocutaneous50–80%TelangiectasiaIncrease with age. Main concerns are cosmetic. May haemorrhageGenerally not indicated, but argon laser therapy can be used17
Gastrointestinal tract11–40%Telangiectasia, aneurysms and AVMs20 Onset generally over 30 years: iron deficiency anaemia, occasionally acute gastrointestinal haemorrhageIron supplementation and transfusion are the mainstay of treatment. Oestrogen-progesterone,21 and laser therapy22beneficial. The role of antifibrinolytics is unclear.23-25
Pulmonary⩾20%Discussed in text.
Cerebral15%Discussed in text.
Hepatic8–16%Dilated sinusoids and peri-portal veins; AVMs including hepatic artery-hepatic vein and portal vein-hepatic vein communications. Associated fibrosis26 Usually silent. Hepatic artery-hepatic vein AVMs: hyperdynamic circulation.27 Portasystemic shunts: ascites28 and encephalopathy29 Diagnosis: angiography, CT, MRI or Doppler sonography.30 Treatment: embolisation27 but not without risk31 32; liver transplantation may be needed33
ConjunctivalUp to 45%TelangiectasiaUsually silent. May have “bloody tears”34 35
  • AVM = arteriovenous malformation.

  • Other sites involved more rarely include spinal, renal,36coronary,37 bony,38 urogenital, splenic,30 and retinal39 vascular beds.

  • Incidence data are derived from references 1, 2, and 8 except where stated.