Hereditary haemorrhagic telangiectasia: a clinical analysis

• Published in: Journal of medical genetics Vol. 29; no. 8; pp. 527 - 530
• Main Authors: Porteous, M E, Burn, J, Proctor, S J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-08-1992; BMJ; BMJ Publishing Group LTD
• Subjects: Adolescent; Adult; Angiography; Arteriovenous Malformations - diagnostic imaging; Biological and medical sciences; Brain - blood supply; clinical aspects; Dermatology; Epistaxis; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; hereditary haemorrhagic telangiectasia; Humans; man; Medical sciences; Telangiectasia, Hereditary Hemorrhagic - epidemiology; Telangiectasia, Hereditary Hemorrhagic - physiopathology; Tomography, X-Ray Computed; United Kingdom - epidemiology; Human; Angioma; Skin disease; Cardiovascular disease; Review; Osler Rendu disease; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.29.8.527

Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an age of onset curve given.