Analiza stvaranja trombina u bolesnika s von Willebrandovom bolesti

master's thesis

• Title (english): Analysis of thrombin generation in patients with von Willebrand's disease
• Author: Ana Majsec
• Mentor: Marija Grdić Rajković (mentor)
• Mentor: Desiree Coen Herak (mentor)
• Committee member: Marija Grdić Rajković (predsjednik povjerenstva)
• Committee member: Željka Vogrinc (član povjerenstva)
• Committee member: Desiree Coen Herak (član povjerenstva)
• Granter: University of Zagreb; Faculty of Pharmacy and Biochemistry; (Department of medical biochemistry and haematology); Zagreb
• Defense date and country: 2023-12-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Pharmacy; Medical Biochemistry

Abstract

Von Willebrandova bolest je najčešći poremećaj zgrušavanja krvi uzrokovan manjkom ili patološkom promjenom VWF. Cilj ovog
rada bio je određivanje stvaranja trombina u bolesnika s VWB pomoću komercijalno dostupnog testa TGA RB na analizatoru
Ceveron®s100 serije (Technoclone, Beč, Austrija), odnosno utvrditi vrijednost navedenog testa u dijagnostici VWB. Analizirani su uzorci 72 ispitanika s kliničkom sumnjom na VWB koji su podijeljeni u 5 osnovnih skupina: tip 1 VWB (N=21), tip 2 VWB
(N=23), tip 3 VWB (N=7), „niski VWF“ (N=6) i bolesnici bez dokazane mutacije u genu za VWF (N=15). Parametri testa TGA RB
(tLag, tPeak, Peak, VI i AUC) uspoređivani su između skupina ispitanika sa i bez VWB. Analizirani rezultati ukazuju na postojanje statistički značajne razlike izmjerenih parametara ovisno o prisutnosti bolesti, ali i o samom tipu bolesti. Dodatnom analizom ispitivanih parametara testa TGA RB s obzirom na krvno srodstvo ispitanika utvrđena je statistički značajna razlika za Peak i VI između pojedinih obitelji. Ispitana je korelacija ispitivanih parametara TGA RB s VWF:Ag, aktivnosti VWF, APTV-om i aktivnosti FVIII. Analizom je utvrđena slaba ili umjerena do dobra povezanost svih izmjerenih parametara s VWF:Ag, aktivnosti VWF, APTV-om i aktivnosti FVIII (uz izuzetak aktivnosti VWF i AUC). Iz dobivenih rezultata vidljivo je kako brzina stvaranja trombina ovisi o tome boluje li ispitivana osoba od VWB ili je zdrava, a i tip VWB utječe na brzinu stvaranja trombina. Utvrđeno je da stvaranje trombina ovisi o krvnom srodstvu, vidljive su statistički značajne razlike za pik trombina i VI između pojedinih obitelji.
Parametri TGA RB pokazuju dobru korelaciju s parametrima koji se koriste u rutinskoj dijagnostici VWB te bi se na temelju
dobivenih rezultata i sam test TGA RB mogao koristiti za probir bolesnika s VWB.

Abstract (english)

Von Willebrand's disease is the most common blood clotting disorder caused by a lack or pathological change of VWF. The aim of this work was to determine thrombin generation in patients with VWD using the commercially available TGA RB test on the Ceveron®s100 series analyzer (Technoclone, Vienna, Austria), that is, to determine the value of the said test in the diagnosis of VWD. Samples of 72 subjects with clinical suspicion of VWD were analyzed and divided into 5 basic groups: type 1 VWD (N=21), type 2 VWD (N=23), type 3 VWD (N=7), "low VWF" ( N=6) and patients without a proven mutation in the VWF gene (N=15). TGA RB test parameters (tLag, tPeak, Peak, VI and AUC) were compared between groups of subjects with and without VWD. The obtained results indicate the existence of a statistically significant difference in the measured parameters depending on the presence of the disease, but also on the type of disease itself. An additional analysis of the examined parameters of TGA RB was made with regard to the blood relationship of the subjects. A statistically significant difference is visible for Peak and VI between individual families. The correlation of the tested TGA RB parameters with VWF:Ag, VWF activity, APTV and FVIII activity was examined. The analysis revealed a weak or moderate to good correlation of all measured parameters with VWF:Ag, VWF activity, APTV and FVIII activity (with the exception of VWF activity and AUC). The obtained results show that the rate of thrombin generation depends on whether the person tested is suffering from VWD or is healthy, and the type of VWD affects the rate of thrombin generation. It was established that the formation of thrombin depends on the blood relationship, statistically significant differences are visible for the thrombin peak and VI between individual families. The TGA RB parameters are showing a good correlation with the parameters used in the routine diagnosis of VWD, and based on the obtained results, the TGA RB itself could be used to screen patients with VWD.

• Keywords: von Willebrandova bolest; von Willebrandov faktor; test stvaranja trombina; test TGA RB
• Keywords (english): von Willebrand disease; von Willebrand factor; thrombin generation assay; TGA RB test
• Language: croatian
• URN:NBN: urn:nbn:hr:163:918698
• Study programme: Title: Medical biochemistry; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra medicinske biokemije (magistar/magistra medicinske biokemije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-01-26 10:11:24