Inherited and acquired hemophilia

Hemofilija je nasljedni poremećaj sustava zgrušavanja sa sklonošću krvarenju. Dva su osnovna oblika, hemofilija A koja nastaje zbog manjka faktora VIII i hemofilija B koja nastaje zbog manjka faktora IX. Geni za faktore VIII i IX se nalaze na X kromosomu, prema tome riječ je o recesivnoj spolno X-vezanoj bolesti, pa su žene nositeljice bolesti, a muškarci su oboljeli. Obiteljska anamneza je pozitivna u dvije trećine bolesnika. Klinička slika bolesti ponajviše ovisi o razini nedostatka faktora zgrušavanja pa razlikujemo blagu, umjerenu i tešku hemofiliju. Najčešći oblik krvarenja je krvarenje u zglobove ili hemartroza. Kod teškog oblika hemofilije nastaju spontana krvarenja koja mogu biti i fatalna (krvarenja u središnji živčani sustav, gastrointestinalni sustav). Kod dijagnoze hemofilije karakterističan nalaz uključuje produljeni aPTV te normalan PV, uredno vrijeme krvarenja i normalan broj trombocita. Potvrda dijagnoze hemofilije A/B uključuje mjerenje aktivnosti faktora VIII/IX koji su u toj bolesti sniženi. Akutno krvarenje treba liječiti što je prije moguće nadomjesnom terapijom faktora koji nedostaje. Profilaktičko liječenje podrazumijeva primjenu koncentrata faktora zgrušavanja u pravilnim intervalima s ciljem sprječavanja krvarenja, a time i sprječavanja kroničnog oštećenja zglobova što je najčešća kronična komplikacija, te na taj način danas omogućuje očekivano trajanje života osoba s nasljednom hemofilijom slično općoj populaciji. U vrlo rijetkim slučajevima javlja se stečeni oblik hemofilije, s razvojem izražene hemoragijske dijateze u osobe koja ranije nije imala sklonost krvarenju. Javlja se u oba spola. Nastaje zbog stvaranja autoprotutijela, najčešće na faktor zgrušavanja VIII. Kliničkom slikom dominiraju opsežna kožna i potkožna krvarenja s mogućim fatalnim krvarenjima u unutarnje organe. Liječi se imunosupresijom kako bi se eradicirali inhibitori te preparatima rFVIIa ili aPCC kako bi se zaustavilo aktivno krvarenje.Hemophilia is a hereditary disease of blood clotting process with bleeding disorder. There are two main types, hemophilia A with the deficiency of factor VIII and hemophilia B with the deficiency of factor IX. The genes for factors VIII and IX are located on the X chromosome, therefore it is a recessive sex-linked disease, where women are carriers and men are affected. Family history is positive in two-thirds of patients. The clinical presentation largely depends on the level of coagulation factors and based on that there is a mild, moderate and severe hemophilia. The most common form of hemorrhage is bleeding in the joints or hemarthros. In severe hemophilia there are spontaneous bleedings, which may be fatal (bleedings in central nervous system, gastrointestinal system). In the diagnosis of hemophilia characteristic findings include prolonged aPTT, normal PT, normal bleeding time and normal platelet count. Confirmation of hemophilia A/B involves measuring the activity of factor VIII/IX. The treatment of acute bleeding should start as soon as possible with replacement therapy of missing factors. Prophylactic treatment includes the application of coagulation factors at regular intervals to prevent bleeding, and thus the prevention of chronic joint damage which is the most common complication of hemophilia. As a result of such treatment approach, today is the life expectancy of people with hemophilia similar to the general population. In very rare cases there is acquired hemophilia, with the development of severe hemorrhagic diathesis in people who previously did not have a bleeding tendency. Affects both men and women. It occurs due to the formation of autoantibodies to coagulation factors, mostly to factor VIII. The clinical presentation is dominated by extensive cutaneous and subcutaneous bleeding with possible fatal bleeding in internal organs. It is treated with immunosuppression in order to eradicate inhibitors to coagulation factors, and preparations of rFVIIa or APCC to stop active bleeding