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Osler - Weber - Rendu syndrome

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Hereditary haemorrhagic telangiectasia is a rare autosomal dominant condition where multiple small telangiectases occur on the skin and mucous membranes, most commonly on the lips and the tongue. Lesions are also often scattered over the pulps of fingers. The size and number of lesions increases with age.

Epistaxis is the most common complaint.

When telangiectases are present in the gastrointestinal tract they may cause chronic blood loss with iron deficiency anaemia. Occasionally there may be torrential bleeding.

Arteriovenous malformations may occur in the:

  • liver
  • lungs, causing:
    • clubbing
    • murmurs
    • paradoxical emboli

Oestrogen may be used to reduce the severity and frequency of epistaxes (via induction of metaplasia of nasal mucosa).

Embolization may be used if there are pulmonary arteriovenous malformations.

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