MEDIX, God. 27 Br. 147/148  •  Pregledni članak  •  Hematologija HR ENG

Von Willebrandova bolest – najčešća nasljedna bolest krvarenjaVon Willebrand’s disease – the most common inherited bleeding disorder

Dražen Pulanić

Von Willebrandova bolest (VWB) najčešća je nasljedna bolest krvarenja. Nastaje zbog kvantitativnog ili kvalitativnoga manjka von Willebrandova čimbenika (VWF), složena velikoga multimernoga glikoproteina koji ima višestruku ulogu u hemostazi. VWF je posrednik adhezije trombocita s oštećenim endotelom (primarna hemostaza) te nosi i stabilizira FVIII u cirkulaciji (sekundarna hemostaza). Dijagnoza VWB-a je zahtjevna, jer je klinički i laboratorijski profil bolesnika vrlo heterogen, a dijagnostički su testovi specifični i složeni, dostupni samo u visokospecijaliziranim koagulacijskim centrima. Klinička slika VWB-a varira od vrlo blage sklonosti krvarenju preko mukokutanih i gastrointestinalnih krvarenja, sve do izrazito teških krvarenja poput najtežeg oblika nasljedne hemofilije. Težina bolesti ovisi o stupnju redukcije VWF-a i FVIII. Liječenje VWB-a uključuje dezmopresin, antifibrinolitike te nadomjesnu terapiju u kojoj se primjenjuju koncentrati koji sadržavaju VWF i FVIII.

Ključne riječi:
von Willebrandova bolest; dijagnostika; terapija

Članak u cijelosti pročitajte u tiskanom izdanju MEDIX, God. 27 Br. 147/148

Von Willebrand’s disease (VWD) is the most common inherited bleeding disorder of haemostasis. It is caused by quantitative or qualitative defects of von Willebrand factor (VWF), a complex multi-adhesive glycoprotein that has several roles in haemostasis. It binds platelets to exposed subendothelium (primary haemostasis) and carries factor VIII (FVIII) in circulation (secondary haemostasis). The diagnosis of VWD remains difficult because its clinical and laboratory phenotype is very heterogeneous, diagnostic tests for this disorder are specific and complex, available in highly specialized coagulation centers. Clinical presentations are variable, from very mild bleeding diathesis, mucous membrane and soft tissue bleedings, gastrointestinal bleedings, to very severe bleeding manifestations such are in the most severe haemophilia patients. Their severity depends on the degree of VWF and FVIII reduction. Treatment of VWD includes desmopressin, antifibrinolitics, and VWF/FVIII concentrates.

Key words:
von Willebrand’s disease; diagnosis; therapy