Author/Editor		Kitanovski, L; Benedik-Dolničar, M
Title		Von Willebrandova bolezen
Translated title		Von Willebrand disease
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 6, št. 1-2
Publication year		1999
Volume		str. 19-27
Language		slo
Abstract		Von Willebrand disease (vWD) is a bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor (vWF). vWF promotes platelet-vessel wall and platelet-platelet interaction and thereby plays a major role in the early phases of haemostasis. It is also the carrier of factor VIII (FVIII) in plasma. A deficiency of vWF may results in impairment of both, primary and secondary phases of haemostasis. Therefore, patients with vWD could manifest bleeding symptoms that are typical of defect of primary hemostasis (mucocutaneous haemorrhages). In case of severe deficiency of vWF, there are also haemarthroses and haematomas present, which are typical for patients with coagulation defects. Several types and subtypes of v WD have been described. The diagnosis based on measurements of vWF concentration in plasma and platelet, the ability of v WF to interact with its platelet receptor, the analysis of the multimeric composition of vWF and measurement of concentration of FVIII in plasma. Due to heterogeneity of vWF defects, a correct diagnosis of types and subtypes is sometimes difficult but is important for appropriate treatment of patients with vWD. The aim of treatment is to correct the existing defects of haemostasis. There are two main options available for the management of patients with vWD: desmopressin and blood derived concentrates of FVIII/v WF. Desmopressin is the treatment of choice in patients with type 1 vWD. It raises endogenous FVIII and vWF and thereby corrects the intrinsic coagulation defect as well as the prolonged bleeding time in most of the patients with type 1 vWD. In type 3 and in the majority of type 2 patients desmopressin is not effective and it is necessary to use concentrates containing FVIII and vWF. These concentrates are always effective in normalisation of FVIII levels, whereas the bleeding time may not be completely corrected, but the normalisation of the bleeding time is not always necessary.
Summary		Von Willebrandova bolezen (vWB) je motnja strjevanja krvi, ki jo povzroči pomanjkanje ali motnja v delovanju von Willebrandovega faktorja (vWF). vWF omogoča adhezijo trombocitov na žilno steno in agregacijo trombocitov. Deluje tudi kot prenašalna molekula faktorja VIII (FVIII) v plazmi. Pomanjkanje vWF lahko povzroči motnjo v primarni in sekundarni hemostazi. Bolniki s vWB imajo lahko simptome, ki so značilni za motnjo primarne hemostaze (mukokutane krvavitve), v primeru hudega pomanjkanja vWF pa se pojavljajo tudi krvavitve v sklepe, mišice in obsežne podkožne krvavitve, ki so značilne za koagulacijske motnje. Opisanih je več tipov in podtipov vWB. Diagnoza temelji na merjenju koncentracije vWF v plazmi in trombocitih, sposobnostih interakcije vWF z receptorji na trombocitih, analizi multimerne sestave vWF in merjenju plazemske koncentracijc FVIII. Zaradi velike heterogenosti motnje je natančna opredelitev tipa in podtipa včasih težka, je pa zelo pomembna, predvsem zaradi izbire primernega načina zdravljenja. Cilj zdravljenja je popraviti obstoječo motnjo hemostaze. Za to sta na voljo dva pristopa zdravljenja: dezmopresin in plazemski koncentrat FVIII/vWF. Dezmopresin je metoda izbire pri bolnikih s tipom 1 vWB. Poveča raven endogenega FVIII in vWF v plazmi in tako popravi motnjo v intrinzični poti koagulacije in skrajša čas krvavitve pri večini bolnikov s tipom 1. Pri večini bolnikov s tipom 2 in pri bolnikih s tipom 3 vWB dezmopresin ni učinkovit in je potrebna uporaba koncentrata FVIII, ki ima ohranjeno aktivnost vWF. Vbrizgani koncentrat vedno normalizira plazemsko koncentracijo FVIII, ne pa vedno tudi časa krvavitve, kar pa ni vedno nujno potrebno.
Descriptors		VON WILLEBRAND'S DISEASE VON WILLEBRAND FACTOR DESMOPRESSIN FACTOR VIII ANTIFIBRINOLYTIC AGENTS MENORRHAGIA POSTPARTUM HEMORRHAGE