QJM Advance Access originally published online on December 8, 2005
QJM 2006 99(1):15-22; doi:10.1093/qjmed/hci148
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Emergencies in hereditary haemorrhagic telangiectasia
From the 1Department of Internal Medicine and Public Health, Section of Internal Medicine, 2Department of Neurological and Psychiatric Sciences, Section of Neuroradiology, 3Department of Emergency and Transplantation, and 4Center for Hereditary Haemorrhagic Telangiectasia, University of Bari, Bari, Italy
Address correspondence to Professor C. Sabbà, Interdepartmental Center for Hereditary Hemorrhagic Telangiectasia, Department of Internal Medicine and Public Health, University of Bari, Policlinico, Piazza Giulio Cesare 11, 70124 Bari, Italy. email: c.sabba{at}dimimp.uniba.it
Received 4 August 2005 and in revised form 7 November 2005
Background: 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.
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