European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

Table 1 The Curaçao Criteria

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
4. Family history: a first degree relative with HHT according to these criteria

The HHT diagnosis is definite if 3 criteria are present, possible or suspected if 2 criteria are present, and unlikely if fewer than 2 criteria are present. A pathogenic (null) sequence variant in ENG, ACVRL1 or SMAD4 also defines definite clinical HHT according to current understanding. A negative HHT gene test does not exclude HHT unless the gene variant causing HHT has been identified in another affected family member

ISSN: 1750-1172