Urban W Geisthoff, Andreas H Mahnken, Ulrike W Denzer, André Kemmling, Christopher Nimsky, Boris A Stuck
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引用次数: 0
Abstract
Background: Hereditary hemorrhagic telangiectasia (HHT, Rendu- Osler-Weber disease, or Osler's disease for short) is a systemic disease that can severely impair the quality of life and that requires interdisciplinary treatment. Among rare diseases, it is relatively common, with a prevalence of approximately 1/5000.
Methods: This review is based on publications retrieved by a selective literature search, including the two international guidelines on clinically relevant aspects of HHT.
Results: On average, about two decades elapse between the initial symptoms and the diagnosis of HHT. 95% of patients have nosebleeds; these usually begin before age 20 but can occur at any time, from infancy to old age. The diagnosis is usually made on clinical grounds on the basis of the characteristic telangiectases, a positive family history, and possible involvement of the gastrointestinal tract, lungs, liver, and brain. Nosebleeds can sometimes be reduced by outpatient measures including counseling on keeping the nose moist (expert consensus), self-application of a nasal packing (which improves the quality of life, according to an online survey), and the prescription of tranexamic acid (reduction of nosebleeds from 17.3% [5.5; 27.6] to 54%). In particular, screening (expert consensus) for pulmonary vascular malformations (frequency 10-50%) can prevent many adverse outcomes. If pulmonary vascular malformations cannot be ruled out, antibiotic prophylaxis is recommended before medical procedures that can cause bacteremia (expert consensus).
Conclusion: Broad awareness of the condition, early diagnosis, and interdisciplinary treatment improve the quality of life and ultimate outcome of persons with HHT. Nevertheless, there are few options supported by good evidence for the appropriate treatment of this rare, often serious disease..
期刊介绍:
Deutsches Ärzteblatt International is a bilingual (German and English) weekly online journal that focuses on clinical medicine and public health. It serves as the official publication for both the German Medical Association and the National Association of Statutory Health Insurance Physicians. The journal is dedicated to publishing independent, peer-reviewed articles that cover a wide range of clinical medicine disciplines. It also features editorials and a dedicated section for scientific discussion, known as correspondence.
The journal aims to provide valuable medical information to its international readership and offers insights into the German medical landscape. Since its launch in January 2008, Deutsches Ärzteblatt International has been recognized and included in several prestigious databases, which helps to ensure its content is accessible and credible to the global medical community. These databases include:
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By being indexed in these databases, Deutsches Ärzteblatt International's articles are made available to researchers, clinicians, and healthcare professionals worldwide, contributing to the global exchange of medical knowledge and research.