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Vojnosanitetski pregled
2017, vol. 74, br. 5, str. 489-493
jezik rada: engleski
vrsta rada: prikaz slučaja
doi:10.2298/VSP150601105R

Creative Commons License 4.0
Nasledna hemoragijska teleangiektazija udružena sa naslednom trombofilijom
aClinic for Gastroenterology and Hepatology, Military Medical Academy, Belgrade + Faculty of Medicine of the Military Medical Academy, University of Defence, Belgrade
bFaculty of Medicine of the Military Medical Academy, University of Defence, Belgrade + Clinic for Urgent Internal Medicine, Military Medical Academy, Belgrade
cClinic for Gastroenterology and Hepatology, Military Medical Academy, Belgrade

e-adresa: branka.roganovic1@gmail.com

Sažetak

Uvod. Nasledna hemoragijska teleangiektazija i nasledna trombofilija su genetski poremećaji sa potpuno suprotnim kliničkim manifestacijama. Glavna karakteristika nasledne hemoragijske teleangiektazije su ponavljana krvarenja, a glavna karakteristika nasledne trombofilije je tromboza. Udruženost oba poremećaja kod istog bolesnika retko se sreće. Prikaz bolesnika. Prikazali smo bolesnicu staru 32 godine, koja je tokom devet godina imala ponavljana gastrointestinalna krvarenja i epistakse. Dijagnoza nasledne hemoragijske teleangiektazije postavljena je prema 'Curaçao' kriterijumima. Kod bolesnice su postojala tri, od četiri kriterijuma: spontane, ponavljane epistakse, multiple teleangiektazije (u nosu) i visceralne lezije (angiodisplastične promene u želucu, teleangiektazije i arterio-venska fistula u jejunumu). Prva manifestacija trombofilije bila je plućna tromboembolija, a dijagnoza je potvrđena genetskim testiranjem. Jednomesečna terapija krvarenja traneksamičnom kiselinom (anti-fibrinolitički agens č ije korišćenje povećava rizik od tromboze) bila je neuspešna, pa je remisija postignuta talidomidom. Plućna tromboembolija inicijalno je lečena aspirinom (koji je lek sa povišenim rizikom od krvarenja), ali lečenje je prekinuto zbog masivne hematemeze. Godinu dana kasnije, zbog pojave novih tromboza, započeta je antikoagulantna terapija u kombinaciji sa blokatorima protonske pumpe. Tokom mesec dana terapije nije bilo novih epizoda krvarenja, niti tromboze. Zaključak. Nasledna hemoragijska teleangiektazija i nasledna trombofilija mogu biti neprepoznate godinama, delom i zbog toga što se na ove bolesti retko misli. Rana dijagnoza i izbor adekvatne terapije su od ključnog značaja za smanjivanje broja ozbiljnih posledica i poboljšanje kvaliteta života.

Ključne reči

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