Nasljedna von Willebrandova bolest i stečeni von Willebrandov sindrom

master's thesis

• Title (english): Hereditary von Willebrand disease and acquired von Willebrand syndrome
• Author: Antonio Radović
• Mentor: Dražen Pulanić (mentor)
• Committee member: Nadira Duraković (predsjednik povjerenstva)
• Committee member: Jasenka Markeljević (član povjerenstva)
• Committee member: Dražen Pulanić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Von Willebrandova bolest (VWB) je najčešći nasljedni poremećaj zgrušavanja krvi u čovjeka. Osnova poremećaja je u kvantitativnoj ili kvalitativnoj deficijenciji von Willebrandovog faktora (VWF). Von Willebrandov faktor je krvni multimerični protein čija je funkcija povezana uz grušanje krvi, primarnu adheziju trombocita i stabilizaciju faktora VIII (FVIII). Od svih poremećaja grušanja krvi VWB ima najveću prevalenciju, čak i do 1 u 100 osoba, iako većina njih nema simptome. Klinički signifikantni slučajevi imaju manju prevalenciju, oko 1 oboljeli na 10.000 osoba. Nasljedna VWB se može podijeliti u 3 tipa: Tip 1 VWB (kvantitativni poremećaj), tip 2 VWB (više podtipova, svi su kvalitativni poremećaji) i tip 3 VWB (potpuni nedostatak krvnog VWF). Dijagnosticiranje VWB-ti je složeno jer zahtjeva više specifičnih laboratorijskih testova poput kvalitativnih i kvantitativnih VWF testova te određivanja faktora VIII. Iako genetičko testiranje može poslužiti u dijagnostici koristi se samo u specifičnim slučajevima poput razlikovanja između hemofilije A i tipa 2N VWB. U liječenju bolesnika s tipom 1 i 2A VWB se koristi dezmopresin, sintetski analog vasopresina, za povećavanje razine VWF prije ortodontski i kirurških postupaka i slučajevima manje traume. Dezmopresin u ovih bolesnika uzrokuje otpuštanje već otprije sintetiziranog VWF s endotelnih stanica. Koriste se i antifibrinolitici poput traneksamične kiseline, zasebno ili zajedno s dezmopresinom. Za bolesnike s drugim tipovima VWB-a ili s težim kliničkim simptomima koriste se koncentrati VWF-a i faktora VIII. U bolesnika s najtežim oblikom bolesti primjenjuje se i profilaksa s takvim koncentratima. U žena s teškim menstrualnim krvarenjima, estrogenska i progesterona hormonska terapija može smanjiti frekvenciju i trajanje tih krvarenja. U nekih bolesnika koji prethodno nisu imali poteškoća s krvarenjima može nastati i stečeni von Willebrandov sindrom.

Abstract (english)

Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. It stems from a quantitative or qualitative deficiency of the von Willebrand factor (VWF). Von Willebrand factor is a blood multimeric protein whose function is closely related to blood-clotting, primarily platelet adhesion and factor VIII stabilization. VWD has the highest prevalence of all blood-clotting disorders, being reported as high as 1 in 100 individuals, though most of them do not have any symptoms. Clinically significant cases have a smaller prevalence, roughly one per 10,000. Hereditary VWD can be divided into 3 types: Type 1 VWD (quantitative disorder), type 2 VWD (many subtypes, qualitative disorder) and type 3 VWD (complete lack of blood VWF). Diagnostics of VWD is complex and requires several specific laboratory procedures like quantitative and qualitative VWF tests, as well as determining factor VIII levels. Though genetic testing can be done to diagnose VWD it is generally used only in specific cases, for example in order to differentiate between type 2N VWD and hemophilia A. In patients with type 1 and type 2A VWD, desmopressin, a synthetic vasopressin analogue, is used to boost VWF levels before dental or surgical procedures or in cases of minor trauma. Desmopressin in these patients causes already synthesized VWF to be released from endothelial cells. Antifibrinolytic therapy such as tranexamic acid is also used in such patients, alone or together with desmopressin. For patients with other types of VWD or patients with severe clinical symptoms, concentrates of VWF and FVIII are used. Prophylaxis can also be conducted using these concentrates in patients where we can expect significant hemorrhages. In women with heavy menstrual bleeding, estrogen and progesterone hormone therapy is used to reduce the frequency and duration of the menstrual periods. In some patients without previous bleeding diathesis acquired von Willebrand syndrome can occur.

• Keywords: von Willebrandova bolest; von Willebrandov faktor; poremećaji zgrušavanja krvi; stečeni von Willebrandov sindrom
• Keywords (english): von Willebrand disease; von Willebrand factor; blood-clotting disorder; acquired von Willebrand syndrome
• Language: croatian
• URN:NBN: urn:nbn:hr:105:483187
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-05-04 09:03:44