Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)

HHT is more prevalent than previously estimated.1,2 The common clinical features of HHT are summarised in the panel.1,2 Clinical diagnosis of HHT is made on the basis of the Curacao criteria, established by the scientific advisory board of the HHT Foundation International. Diagnosis is based on: 1) epistaxis-spontaneous, recurrent nose-bleeds; 2) telangiectases-multiple, at characteristic sites (lips, oral cavity, fingers, nose); 3) visceral lesions-such as gastrointestinal telangiectasia (with or without bleeding), pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM; and 4) family history-a first-degree relative with HHT. Three criteria indicate a definite diagnosis of the disorder; two a possible or suspected case.7 Visceral AVMs can cause considerable morbidity and mortality if overlooked and left untreated.1,2 Management issues include treatment for identified complications and screening for undiagnosed AVMs. Close follow-up is necessary because telangiectases and AVMs tend to increase both in size and in number with age.