Akademik Veri Yönetim Sistemi
ESGE Days 2024, Berlin, Almanya, 25 - 27 Nisan 2024, ss.297
Aims Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome (OWRS), is a rare hereditary disease. HHT is characterized by arteriovenous malformations (telangiectasia). The most important and the most common manifestation is epistaxis. In this study, we aimed to examine the clinical characteristics and disease course of patients diagnosed with HHT.
Methods 14 HHT patients followed at a tertiary university hospital were examined. Information about the patients was obtained from patient files. The study was designed as retrospectively. The patients were examined in terms of their demographic characteristics, disease characteristics, gastrointestinal (GI) bleeding history, family history, and survival characteristics.
Results In total, 5 out of 14 patients (35.7%) were female and 9 (64.2%) were male. The average age of the patients is 65.67±12.61 years. The mean disease age was 148.8±84.13 months. Although there was no significant statistical difference between them, male patients had a longer disease duration (P>0.05). 4 of the patients (28.6%) were diagnosed HHT with gastrointestinal system bleeding. A total of 10 (71.4%) patients developed a history of GI bleeding during their follow-up. The number of patients who had no GI bleeding during their follow-up was 2 (14.2%). More than one GI bleeding occurred in 5 (35.7%) patients. 10 patients had a history of epistaxis.
All patients underwent endoscopic evaluation. Only one patient had telangiectasia in the colon, except that all other patients had telangiectasia in the upper GI tract. The source of GI bleeding in all but one patient was from the upper GI tract. During their follow-up, argon plasma coagulation was performed in 7 patients. No endoscopic intervention was required in 7 patients. 3 patients also had extraintestinal visceral involvement. Hepatic arteriovenous malformation was observed in 1 of them and cerebral arteriovenous malformation was observed in 2 of them. First-degree relatives of 3 patients were diagnosed with HHT.
At the end of the follow-up, 4 patients died.
Conclusions HHT or OWRS, is a rare genetic disease that seriously affects patients in terms of both morbidity and mortality, and gastroenterologist has an important role in patient follow-up and management.