Hereditarna hemoragijska teleangiektazija – pregled literature i prikaz vlastitih iskustava

Marija Ivić, Božo Radić, Rajko Kušec, Vlatko Pejša, Ivica Grgurević, Zdravko Mitrović

Cilj istraživanja: Cilj je ovog rada prikazati klinička iskustva našeg centra s oboljelima od hereditarne hemoragijske teleangiektazije (HHT). Prikazali smo kliničku sliku svojih bolesnika, nove dijagnostičke i terapijske mogućnosti, kao i svjetske smjernice u dijagnostici bolesti. Ispitanici i metode: U ovu retrospektivnu studiju uključeno je 13-ero bolesnika liječenih u Klinici za unutarnje bolesti KB-a Dubrava u razdoblju od 2008. do 2017. godine. Rezultati: Bilo je 9 muškaraca i 4 žene u dobi između 45 i 80 godina (medijan 70 godina). Svih 13-ero bolesnika prezentiralo se sideropeničnom anemijom i rekurentnim epistaksama koje su ujedno bile i najraniji znak bolesti. Dvanaestero bolesnika imalo je mukokutane teleangiektazije, a njih devetero gastrointestinalna krvarenja. U jednog bolesnika dokazana je pulmonalna, a kod još jednoga hepatalna arteriovenska malformacija. Nakon medijana praćenja od 60 mjeseci devetero je bolesnika živo, a njih četvero preminulo je. Zaključci: Prava dijagnoza bolesti u većine naših bolesnika postavljena je tek u starijoj dobi iako su se simptomi javljali i puno prije. U Republici Hrvatskoj ne postoje točni podaci o broju oboljelih, kao ni smjernice za otkrivanje i liječenje komplikacija bolesti. Nužno je formiranje multidisciplinarnih timova radi unaprjeđenja dijagnostike, ranijeg otkrivanja komplikacija bolesti te sveobuhvatnijeg praćenja bolesnika.

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.