Diagnosis and management of von Willebrand disease in Slovakia

Kubisz, Peter; Sokol, Juraj; Šimurda, Tomáš; Plamenova, Ivana; Dobrotová, Miroslava; Holly, Pavol; Škorňová, Ingrid; Staško, J.

doi:10.21037/aob.2018.01.03

Cited by 5 publications

(8 citation statements)

References 7 publications

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“…12 In Slovakia, we previously reported one of the highest prevalences of type 3 VWD (0.9 per 100,000) in developed countries. 13 This may relate to different classification of patients with very low levels of VWF as type 3 versus those with high levels of VWF as severe type 1, also possibly because of problems with detection of very low levels of VWF by some laboratories. 14 Thus, usually all patients with VWF plasma levels around 1 IU/dL could be considered to have type 3 VWD, but they may be misdiagnosed as having severe type 1 VWD if levels are incorrectly reported around 5 to 10 IU/dL.…”

Section: Characterization Of Von Willebrand Diseasementioning

confidence: 99%

“…14 Thus, usually all patients with VWF plasma levels around 1 IU/dL could be considered to have type 3 VWD, but they may be misdiagnosed as having severe type 1 VWD if levels are incorrectly reported around 5 to 10 IU/dL. 13,14 The cause of VWD is an inherited deficit in the plasma concentration of VWF, or its structure or function. Deficiency or functional defects may be because of reduced or defective synthesis or accelerated degradation of VWF within the bloodstream.…”

Section: Characterization Of Von Willebrand Diseasementioning

confidence: 99%

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Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives

Žolková

Sokol

Šimurda

et al. 2019

Semin Thromb Hemost

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Sequencing of the gene encoding for von Willebrand factor (VWF) has brought new insight into the physiology of VWF as well as its pathophysiology in the context of von Willebrand disease (VWD). Molecular testing in VWD patients has shown high variability in the overall genetic background of this condition. Almost 600 mutations and many disease-causing mechanisms have been described in the 35 years since the VWF gene was identified. Genetic testing in VWD patients is now available in many centers as a part of the VWD diagnostic algorithm. Molecular mechanisms leading to types 2 and 3 VWD are well characterized; thus, information from genetic analysis in these VWD types may be beneficial for their correct classification. However, the molecular basis of type 1 VWD is still not fully elucidated and most likely represents a multifactorial disorder reflecting a combined impact of environmental and genetic factors within and outside of VWF. Regarding sequencing methods, the previous gold-standard Sanger sequencing is gradually being replaced with next-generation sequencing methods that are more cost- and time-effective. Instead of gene-by-gene approaches, gene panels of genes for coagulation factors and related proteins have recently become a center of attention in patients with inherited bleeding disorders, especially because a high proportion of VWD patients, mainly those with low VWF plasma levels (type 1), appear to be free of mutations in VWF. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are accessible in a very limited number of laboratories. Results from these studies have presented several genes other than VWF or ABO possibly affecting VWF levels, and such findings will need further validation studies.

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Section: Characterization Of Von Willebrand Diseasementioning

confidence: 99%

Section: Characterization Of Von Willebrand Diseasementioning

confidence: 99%

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives

Žolková

Sokol

Šimurda

et al. 2019

Semin Thromb Hemost

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“…The prevalence based on clinical data is much lower, about 0.05 % people (1). In Slovakia the prevalence of patients with VWD is 11.2 per 100 000 (2).…”

Section: Characterisation Of Vwdmentioning

confidence: 96%

The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

Žolková

Sokol

Šimurda

et al. 2019

Acta Medica Martiniana

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Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder. In the Slovak Republic genetic testing is still not a routine part of VWD diagnostics. The National Center of Hemostasis and Thrombosis in Martin is the first department in Slovakia which has begun genetic testing of patients with VWD. Sequencing of the VWF gene has many limitations which are referred in more details within this article. Therefore, we decided to use the methods of new generation sequencing in combination with Sanger sequencing. We believe that soon we will have the first results which will help us to identify the possible cause of VWD in these patients.

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“…Данный показатель объясняется как сложностью диагностики, так и преобладанием легких форм заболевания. Для сравнения данный показатель в других странах составляет: в Великобритании -16,05; Венгрии -14,5; Словакии -11,2; Чехии -7,7; России -1,0; Украине -1,03 [3][4][5].…”

unclassified

“…III типпрактически полное отсутствие vWF, низкая активность FVIII. Это наиболее тяжелый и редкий тип (5% больных) БВ [5,6]. В настоящее время описаны еще несколько форм БВ: форма Виченза, при которой в крови постоянно находятся сверхтяжелые мультимеры vWF и снижены их общее количество и активность (сейчас эту форму относят к I типу); изолированное нарушение коллагенсвязывающей функции vWF [7,8] .…”

unclassified

Von Willebrand Disease as Part of Hereditary Coagulopathy

С.А.¹,

Ромашевская²,

А.Н.³

et al. 2022

Гематология. Трансфузиология. Восточная Европа

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Цель исследования. Дать оценку болезни фон Виллебранда (БВ) в рамках наследственных коагулопатий с определением инициальных клинико-лабораторных характеристик.Материалы и методы. Всего обследовано 43 пациента с различными вариантами наследственной коагулопатии в возрасте от 4 месяцев до 18лет. Из них с БВ – 16 детей. Проводился учет инициальных клинических проявлений и анализ показателей скрининговых и уточняющих тестов системы гемостаза. Статистическая обработка выполнялась с помощью пакета прикладных программ Microsoft Excel и MedCalc 10.2.0.0. Полученные данные были представлены в виде Ме (Q25–Q75).Результаты и заключение. Среди диагностированных случаев наследственных коагулопатий у детей БВ составила 37,2%. Средний возраст пациентов – 8,4 года. Несколько чаще БВ наблюдалась у девочек – 56,25% (n=9). Наиболее распространенным типом БВ (56%) явился I тип заболевания. III тип БВ диагностирован только в 1 случае. В 25% случаев в семейном анамнезе наблюдались различные нарушения системы гемостаза, в том числе БВ в 12,5%. При анализе данных об инициальной клинической картине установлено, что геморрагический синдром чаще всего выражался в виде упорных рецидивирующих носовых кровотечений – 37,5%. Удлинение АЧТВ отмечено у 50% пациентов. Наиболее типичными изменениями со стороны показателей гемостазиограммы при всех типах заболевания явились: снижение активности VIII фактора свертывания (FVIII) и фактора фон Виллебранда (vWF). Медианы данных показателей были ниже нормальных значений и составили соответственно для FVIII 23,8 (26; 64)% и для vWF 18,2 (12,0; 33,5)%. Отмечено также снижение уровня антигена vWF (Ag vWF) и ристоцетинкофакторной активности vWF (vWF:Rco). Значения vWF:Rco колебались от 0,5 до 36,6% при медиане 17,9 (2,9; 31,8)%. Минимальный показатель Ag vWF составил 0,05%, максимальный – 81,7% при медиане 21,0 (17,0; 36,8)%. Тот факт, что у всех детей из группы наблюдения выявлено снижение коагуляционной и ристоцетинкофакторной активности, vWF позволяет отнести эти тесты к наиболее значимым в диагностике БВ. Purpose. To assess von Willebrand disease (VW) as part of hereditary coagulopathy with the determination of initial clinical and laboratory characteristics.Materials and methods. A total of 43 patients with various types of hereditary coagulopathy aged from 4 months to 18 years were examined. 16 children out of them were diagnosed with VW. The initial clinical manifestations were noted and taken into account and the indicators of screening and clarifying tests of the hemostasis system were analyzed. Statistical processing was performed using the Microsoft Excel and MedCalc10.2.0.0 software package. The data obtained were presented as Me (Q25–Q75).Results and conclusion. Among the diagnosed cases of hereditary coagulopathy in children, VW was 37.2%. The average age of patients was 8.4 years. Slightly more often VW was observed in girls – in 56.25% (n=9). The most common type of VW (56%) was type I disease. Type III VW was diagnosed in only one case. In 25% of cases, various disorders of the hemostasis system were observed in a family history, including VW in 12.5%. When analyzing the data on the initial clinical picture, it was found that the hemorrhagic syndrome was most often expressed in the form of persistent recurrent nosebleeds – 37.5%. Prolonged APTT was noted in 50% of patients. The most typical changes in hemostasiogram parameters in all types of the disease were the following: a decrease in the activity of coagulation factor VIII (FVIII) and von Willebrand factor (vWF). The medians of these indicators were below normal values and amounted to 23.8 (26; 64)% and 18.2 (12.0; 33.5)%, respectively, for FVIII and vWF. A decrease in the level of vWF antigen (Ag vWF) and ristocetin-cofactor activity of vWF (vWF:Rco) was also noted. The vWF:Rco values ranged from 0.5 to 36.6% with a median of 17.9 (2.9; 31.8)%. The minimum Ag vWF was 0.05%, the maximum was 81.7%, with a median of 21.0 (17.0; 36.8)%. The fact that all children from the observation group showed a decrease in the coagulation and ristocetin-cofactor activity of vWF makes it possible to classify these tests as the most significant in the diagnosis of VW.

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Diagnosis and management of von Willebrand disease in Slovakia

Cited by 5 publications

References 7 publications

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives

The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

Von Willebrand Disease as Part of Hereditary Coagulopathy

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