Hereditary haemorrhagic teleangiectasia (Rendu-Osler-Weber disease)
Authors:
M. Bradáčová 1; E. Faber 1; J. Minařík 1; F. Čtvrtlík 2; E. Čecháková 2
Authors‘ workplace:
Hemato-onkologická klinika LF UP a FN Olomouc
1; Radiologická klinika LF UP a FN Olomouc
2
Published in:
Transfuze Hematol. dnes,29, 2023, No. 3, p. 171-176.
Category:
doi:
https://doi.org/10.48095/cctahd2023prolekare.cz5
Overview
Hereditary telangiectasia is a congenital disease in which patients develop a characteristic enlargement of small capillaries on the skin and mucous membranes, called telangiectasia. With increasing age, telangiectasias often rupture and cause bleeding. If bleeding recurs too frequently, whether in the form of epistaxis, haemoptysis or gastrointestinal bleeding, patients develop anaemia, often leading to significant iron deficiency. Far more serious is the occurrence of arteriovenous malformations in parenchymatous organs, progressively increasing with increasing patient age. The lungs, stomach, liver and brain are most commonly affected. Bleeding from malformations in these localizations can be fatal and therefore early identification is important. Screening for arteriovenous malformations in the above-mentioned high-risk localizations is recommended not only for the patient himself but also for his family. Currently, the possibility of detecting causative mutations is also offered. Treatment should always be assessed on an individual basis. Sometimes only local therapy, haemostatic therapy or iron substitution is sufficient, other times systemic therapy is needed.
Keywords:
bleeding – ibrutinib – arterial hypertension – chronic lymphocytic leukaemia – acalabrutinib – BTK inhibitor – atrial fi brillation
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Labels
Haematology Internal medicine Clinical oncologyArticle was published in
Transfusion and Haematology Today
2023 Issue 3
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