Aleksandr Marchockij1, Dominyka Stragytė1
1Lithuanian university of health sciences, Medical Academy, Faculty of Medicine
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant disease with an approximate prevalence of 1/6,000 in Europe. The prevalence may be even higher due to atypical clinical manifestations of the disease. There are three types of HHT: HHT1 – caused by mutations in ENG gene, HHT2 – caused by mutations in ACVRL1 gene and JPHT – juvenile polyposis-HHT overlap syndrome – caused by mutations in SMAD4 gene. These mutations cause the developement of vascular defects – telangiectasias and arteriovenous malformations (AVMs), which appear in various organs. Frequency and severity of the complications depends on the type and location of the lesions. HHT diagnosis is based on Curacao criteria. Treatment methods are chosen individually and target management of bleeding, anaemia and symptoms related to AVMs.
Keywords: Hereditary haemorrhagic telangataemia (PHT), Rendu-Osler-Weber syndrome, telangiectiasis, arteriovenous malformation (AVM).