Emergencies in hereditary haemorrhagic telangiectasia.
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.


OBJECTIVE
To assess the frequency and type of emergency acute complications in HHT.


METHODS
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.


CONCLUSIONS
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.
Gallitelli
M
M
Department of Internal Medicine and Public Health, Section of Internal Medicine, Bari, Italy.
Pasculli
G
G
Fiore
T
T
Carella
A
A
Sabbà
C
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D004630:Emergencies; D004638:Emergency Treatment; D004844:Epistaxis / Q000209:etiology; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006331:Heart Diseases / Q000209:etiology; D006801:Humans; D007558:Italy; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology; D012140:Respiratory Tract Diseases / Q000209:etiology; D012189:Retrospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*