Hereditary haemorrhagic telangiectasia – systematic review and single center experience

Sa？etak Aim: The aim of this study is to present our center’s clinical experience with hereditary haemorrhagic telangiectasia (HHT). Herein, we showed clinical presentations of our patients, new diagnostic and therapeutic options, as well as the international guidelines for HHT diagnosis. Patients and methods: In this retrospective study, we identified 13 patients that were treated at the Department of Medicine, Clinical Hospital Dubrava from 2008 to 2017. Results: There were nine men and four women aged between 45 and 80 years (median 70 years). All 13 patients presented with sideropenic anaemia and recurrent epistaxis that was the earliest sign of the disease. Twelve patients had mucocutaneous telangiectasia, and nine patients were presented with gastrointestinal bleeding. One patient was diagnosed with pulmonary arteriovenous malformation, and the other one with hepatic malformation. After a median follow-up of 60 months, nine patients are alive, and four patients died. Conclusion: Most of our patients were diagnosed in older age, although the symptoms appeared much earlier in life. There are no data on the number of patients with HHT in the Republic of Croatia. Also, guidelines for diagnosis and screening for complications are lacking. Therefore, it is necessary to form a multidisciplinary team for diagnostic improvement, early detection of complications, and more intensive monitoring of patients