| Abstract | Uvod: Von Willebrandova bolest je najčešći nasljedni poremećaj zgrušavanja krvi koji nastaje zbog kvantitativnih ili kvalitativnih poremećaja sinteze von Willebrandovog faktora. Oblici bolesti u kojima nastaje kvalitativni poremećaj VWF su tip 2A, 2B, 2N i 2M, dok kvantitativni poremećaj VWF čine tip 1 i 3. Upitnik o sklonosti krvarenju (engl. Bleeding Assessment Tool, BAT) je standardizirani upitnik s 14 kategorija za retrospektivnu procjenu simptoma poremećaja krvarenja. Cilj: Prikazati imaju li bolesnici s dokazanom von Willebrandovom bolešću više bodova u upitniku o sklonosti krvarenju od zdrave populacije, a sekundarno prikazati i usporediti bodove u upitniku s različitim tipovima von Willebrandove bolesti. ----- Ispitanici i metode: U studiju su retrospektivno uključeni bolesnici s postavljenom dijagnozom VWB koji se kontroliraju u Zavodu za hematologiju Kliničkog bolničkog centra Zagreb. Kao kriterij za uključivanje korišteni su rezultati laboratorijskih testova iz njihove medicinske dokumentacije. Kontrolna skupina odabrana je individualnim usklađivanjem po dva zdrava ispitanika iz opće populacije koji su s ispitanicima podudarni po spolu i dobi. ------ Rezultati: Od 37 bolesnika s potvrđenom VWB i 75 zdravih kontrola, u grupi bolesnika s VWB 24 (64,9%) ispitanika bilo je ženskog, a 13 (35,9%) muškog spola. Medijan (raspon) bodova u grupi bolesnika s VWB (12, 3-29) je bio značajno viši od medijana (raspona) bodova grupe zdravih ispitanika (2, 0-13), p<0,001. Razlika je bila jasna i kod usporedbe broja bodova u skupini žena s VWB (12,5, 1-29) i zdravih ispitanica (2, 0-13), te također i muškaraca s VWB (12, 3-24) i zdravih ispitanika (2, 0-8). Medijan (raspon) bodova bolesnika s tipom 1 VWB (n=20) je bio 9,5 (1-24), s tipom 2 (n=6) 8,5 (4-29), dok je bolesnicima s tipom 3 (n=8) medijan bio 18,5 (14-26). Usporedba bodova između žena i muškaraca s VWB pokazala je da žene imaju medijan (raspon) ukupnog broja bodova 13 (1-29), a muškarci 12 (3-24). Kod žena s VWB je najčešće opisan poremećaj krvarenja tijekom menstruacije i krvarenja kod vađenja zuba. Kada se izuzmu kategorija menoragije u žena, najčešće zastupljeno u oba spola s VWB je bilo krvarenje kod vađenja zuba (38% u skupini žena i 43% kod muškaraca). Sljedeći simptom po učestalosti u žena je bilo krvarenje u kožu (25%), a u muškaraca epistaksa (29%). Pozitivna prediktivna vrijednost testa za otkrivanje VWB u žena iznosi 79,17%, a negativna iznosi 89,36%. Kod muškaraca pozitivna prediktivna vrijednost iznosi 73,33%, a negativna 91,67%. Specifičnost upitnika za žene je 89,36%, a osjetljivost 79,17%. Kod muškaraca su specifičnost i osjetljivost upitnika 84,62%. ----- Zaključak: Von Willebrandova bolest često ostaje neprepoznata što može dovesti do pojave ozbiljnih krvarenja koja bi se pravodobnim postavljanjem dijagnoze i odgovarajućim liječenjem mogla spriječiti. Korištenje standardiziranih testova za procjenu krvarenja može olakšati postavljanje sumnje. a time i na postavljanje dijagnoze von Willebrandove bolesti. ISTH BAT za samostalno ispunjavanje na hrvatskom jeziku se pokazao kao vrlo dobar alat probira za prepoznavanje bolesnika s von Willebrandovom bolesti. |
| Abstract (english) | Introduction: Von Willebrand's disease is the most common inherited blood clotting disorder that occurs due to quantitative or qualitative disorders of von Willebrand factor synthesis. The forms of the disease in which a qualitative disorder of VWF occurs are type 2A, 2B, 2N and 2M, while the quantitative disorder of VWF consists of types 1 and 3. The Bleeding Assessment Tool (BAT) is a standardized questionnaire with 14 categories for retrospective assessment symptoms of bleeding disorders. ----- Objective: To show whether patients with proven VWD have higher scores in the questionnaire on the bleeding tendency of the healthy population, and secondary to show and compare the scores in the questionnaire with different types of VWD. ----- Subjects and methods: The study retrospectively analysed patients diagnosed with VWD who were followed at the Department of Hematology of the Zagreb Clinical Hospital Center. The control group consisted of the match-paired healthy individuals. Two healthy subjects from the general population were matched to each patients by the gender and age. ----- Results: Out of 37 patients with confirmed VWD and 75 healthy controls, in the group of patients with VWD 24 (64.9%) subjects were female and 13 (35.9%) were male. The median (range) of scores in the group of patients with VWD (12, 3-29) was significantly higher than in the group of healthy subjects (2, 0-13), p<0.001. The difference was also clear when comparing the number of points in the group of women with VWB (12.5, 1-29) and healthy subjects (2, 0-13), and also men with VWB (12, 3-24) and healthy subjects (2, 0-8). The median (range) score of patients with type 1 VWB (n=20) was 9.5 (1-24), in type 2 (n=6) 8.5 (4-29), while in type 3 (n =8) the median was 18.5 (14-26). Comparison of scores between women and men with VWD showed that women have a median (range) of total points of 13 (1-29), and men 12 (3-24). In women with VWD menorrhagia and bleeding during tooth extraction were most commonly described. When the category of menorrhagia in women is excluded, the most common symptom of bleeding in both sexes with VWD was bleeding during tooth extraction (38% in the group of women and 43% in men). The next most frequent symptom in women was bleeding into the skin (25%), and epistaxis in men (29%). When using the cut-off value of 6 for women and 4 for men, the positive predictive value of the BAT for detecting VWD in women is 79.17%, while the negative predictive value is 89.36%. In men, the positive predictive value is 73.33%, while the negative predictive value is 91.67%. The specificity of the questionnaire for women is 89.36%, and the sensitivity is 79.17%. In men, the specificity and sensitivity of the questionnaire is 84.62%. ----- Conclusion: VWD often remains unrecognized, which can lead to serious bleeding that could be prevented with timely diagnosis and appropriate treatment. The use of standardized tests to assess bleeding may facilitate suspicion. and thus the diagnosis of VWD. The ISTH BAT for self-completion in Croatian has proven to be a very good screening tool for identifying patients with von Willebrand disease. |
