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Emergencies in hereditary haemorrhagic telangiectasia Gallitelli M; Pasculli G; Fiore T; Carella A; Sabba CQJM 2006[Jan]; 99 (1): 15-22BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a systemic autosomal dominant vascular disease. Although the clinical picture is that of a chronic disabling disease, vascular malformations can suddenly lead to life-threatening conditions. AIM: To assess the frequency and type of emergency acute complications in HHT. DESIGN: Retrospective case-note review. METHODS: From August 2000 to December 2004, our specialized HHT centre saw 139 patients (74 males, 65 females, mean age 45.5 years, range 14-77) with a definite diagnosis of HHT. We reviewed their clinical files and recorded all visits for acute complications (massive nosebleeds, haematemesis, melaena, haematochezia, haemothorax, haemoptysis, TIA/ischaemic stroke, haemorrhagic stroke, brain abscess). RESULTS: Fifty patients (35.9%) had at least one acute complication. There were a total of 93 visits potentially involving the emergency department. Most commonly, patients sought urgent medical attention for nosebleeds and gastrointestinal bleeding (63.4%), but there were also disorders of the brain, lung, heart and liver. DISCUSSION: Acute complications of HHT are not uncommon and can be severe and wide-ranging. Physicians should be aware of HHT and its major complications, as a prompt diagnosis is essential to direct patients to the most appropriate therapies, and to suggest screening for visceral involvement in their relatives.|Adolescent[MESH]|Adult[MESH]|Aged[MESH]|Emergencies[MESH]|Emergency Treatment[MESH]|Epistaxis/etiology[MESH]|Female[MESH]|Gastrointestinal Hemorrhage/etiology[MESH]|Heart Diseases/etiology[MESH]|Humans[MESH]|Italy[MESH]|Liver Diseases/etiology[MESH]|Male[MESH]|Middle Aged[MESH]|Nervous System Diseases/etiology[MESH]|Respiratory Tract Diseases/etiology[MESH]|Retrospective Studies[MESH]|Telangiectasia, Hereditary Hemorrhagic/*complications[MESH] |
