Nasledna hemoragijska teleangiektazija udružena sa naslednom trombofilijom

  • Branka Roganović Clinic for Gastroenterology and Hepatology, Military Medical Academy, Belgrade, Serbia; Faculty of Medicine of the Military Medical Academy, University of Defence, Belgrade, Serbia-
  • Slobodan Obradović Faculty of Medicine of the Military Medical Academy, University of Defence, Belgrade, Serbia; Clinic for Urgent Internal Medicine, Military Medical Academy, Belgrade, Serbia-
  • Aleksandar Micić Clinic for Gastroenterology and Hepatology, Military Medical Academy, Belgrade, Serbia
  • Stanko Petrović Clinic for Gastroenterology and Hepatology, Military Medical Academy, Belgrade, Serbia
DOI: https://doi.org/10.2298/VSP150601105R
Ključne reči: telangiectasia, hereditary hemorrhagic||, ||teleangiektazija, nasledna, hemoragijska, thrombophilia||, ||trombofilija, comorbidity||, ||komorbiditet, diagnosis||, ||dijagnoza, treatment outcome||, ||lečenje, ishod,

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 (antifibrinolitički agens čije 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.

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Objavljeno
2017/07/05
Broj časopisa
Vol. 74 Br. 5 (2017)
Rubrika
Prikaz bolesnika