[Osler's disease - a disease with a wide variety of clinical manifestations deserving multidisciplinary competence].
Lakartidningen(2022)
Abstract
Hereditary haemorrhagic telangiectasia (HHT, Osler disease) is an autosomal dominant disease with a prevalence of about 1 in 5 000. The most common symptom is epistaxis in 90 percent of patients, with an average onset at the age of 12 years. Pulmonary arteriovenous malformations are present in 15-35 percent of patients and are associated with embolic complications, such as stroke and cerebral abscesses. No causative treatment for HHT exists. Iron deficiency anaemia is a common complication. It is treated with oral or intravenous iron replacement depending on the response to tranexamic acid and local treatments. Bevacizumab has been reported to be effective in reducing bleeding complications as well as hepatic and cardiac failure. A multidisciplinary center for the treatment of HHT was established at the University Hospital in Uppsala in 2009.
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Key words
osler,disease,clinical manifestations
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