Asociación entre enfermedad de von Willebrand y angiodisplasia: ¿casualidad o causalidad?

Von Willebrand factor (vWf) is a fundamental multimeric plasma glycoprotein in the coagulation process. Its function is to mediate platelet adhesion and to stabilize circulating factor VIII. A functional or quantitative alteration of vWf gives rise to von Willebrand disease (vWD). The association between vWD and angiodysplasia was described in 1967, but it was only until 2011 that Starke et al demonstrated the in vitro and in vivo role of vWf in angiogenesis. Congenital or acquired vWf deficiency, especially of high molecular weight multimeters, not only favors bleeding, but also contributes to increased angiogenesis in these patients. The treatment should be focused both on the control of the acute episode of gastrointestinal bleeding, with vWf replacement therapy and local endoscopic treatment, as well as on the prevention of the progression of angiodysplasia and future bleeding. There are different published therapeutic approaches using vWf replacement that are not effective in all patients. Recently, angiogenesis inhibitor medications have been used.

Oral Hygiene and Dentition Status in Patients with Congenital Hemorrhagic Disorders: A Comparative Study

Abstract Objective: To compare the status of oral hygiene and dentition in patients with congenital hemorrhagic disorders with their age-matched healthy counterparts. Also, the prevalence of fear of dentists/ dental treatment among these patients was assessed. Material and Methods: This study was performed on children and adults with von Willebrand disease (vWD), hemophilia (A or B), and healthy subjects. Oral health and dentition status was assessed using the simplified oral hygiene index (OHI-S), plaque index, and the decayed, missing, filled teeth (dmft/DMFT) index. One-way ANOVA test was employed to compare the oral hygiene and dentition status of subjects in the three groups. A p-value of <0.05 was considered statistically significant. Results: The DMFT score did not vary significantly between the groups (p>0.05). Higher OHI-S scores and a poor oral hygiene status was observed more in the hemophilia group than the vWD group and healthy controls. A total of 27.3% of the subjects in the vWD group, 18.2% of subjects in the hemophilia group, and no subjects in the healthy group had a fear of dentists or dental treatment. Conclusion: Subjects with vWD had a higher number of carious teeth when compared to the other groups. Poor oral hygiene status was observed in subjects with hemophilia.

Perfil demográfico y epidemiológico de pacientes con Hemofilia y von Willebrand atendidos en el Área de Estomatología del Hospital de Especialidades Carlos Andrade Marín / Demographic and epidemiological profile of patients with Hemophilia and von Willebrand treated in the Stomatology Area of the Carlos Andrade Marín Specialties Hospital

INTRODUCCIÓN. Las alteraciones hereditarias de la hemostasia son patologías raras, dentro de estas se encuentran: Hemofilia A, Hemofilia B y von Willebrand. La hemofilia es un trastorno hereditario, ligado al cromosoma X, causado por ausencia o actividad reducida del factor VIII o IX. La enfermedad de von Willebrand es causada por la deficiencia del factor VIII. OBJETIVO. Determinar el perfil demográfico y epidemiológico de pacientes con Hemofilia y von Willebrand. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, transversal. La población de estudio fueron 133719 con una muestra de 144 pacientes, los criterios de inclusión fueron: pacientes de ambos sexos entre 2 a 88 años de edad, con diagnóstico de Hemofilia A, B, von Willebrand. Atendidos en la consulta externa del Área de Estomatología del Hospital de Especialidades Carlos Andrade Marín, en el periodo 2015-2018. Datos obtenidos del sistema AS400, analizados en el programa International Business Machines Statistical Package for the Social Sciences, Versión 22.0. RESULTADOS. El 77,0% (111; 144) perteneció al género masculino. El rango de edad fue entre 23 y 33 años con 24,0% (34; 144). Tuvieron Hemofilia A 62,0% (93; 144); Hemofilia B 6,0% (9; 144); von Willerbrand 28,0% (42; 144). El 50,0% (77; 144) recibieron tratamientos odontológicos; preventivos 15,0% (21; 144) y curativos 13,0% (18; 144); siendo la mayor patología caries dental. CONCLUSIÓN. Se determinó el perfil demográfico y epidemiológico de los pacientes con Hemofilia y von Willebrand que permitió brindar un tratamiento integral, interdisciplinario y oportuno.

INTRODUCTION. Hereditary abnormalities of hemostasis are rare pathologies, within these are: Hemophilia A, Hemophilia B and von Willebrand. Hemophilia is an inherited disorder, linked to the X chromosome, caused by absence or reduced activity of factor VIII or IX. Von Willebrand's disease is caused by factor VIII deficiency. OBJECTIVE. Determine the demographic and epidemiological profile of patients with hemophilia and von Willebrand. MATERIALS AND METHODS. Observational, descriptive, cross-sectional study. The study population was 133719 with a sample of 144 patients, the inclusion criteria were: patients of both sexes between 2 and 88 years of age, with a diagnosis of Hemophilia A, B, von Willebrand. Attended in the external consultation of the Stomatology Area of the Carlos Andrade Marín Specialty Hospital, in the period 2015-2018. Data obtained from the AS400 system, analyzed in the International Business Machines Statistical Package for the Social Sciences program, Version 22.0. RESULTS 77,0% (111; 144) belonged to the male gender. The age range was between 23 and 33 years with 24,0% (34; 144). They had hemophilia at 62,0% (93; 144); Hemophilia B 6,0% (9; 144); von Willerbrand 28,0% (42; 144). 50,0% (77; 144) received dental treatments; preventive 15,0% (21; 144) and curative 13,0% (18; 144); being the biggest dental caries pathology. CONCLUSION. The demographic and epidemiological profile of patients with Hemophilia and von Willebrand was determined, which allowed to provide a comprehensive, interdisciplinary and timely treatment.

Clinical observation of desmopressin in the treatment of 15 patients with DDAVP / 中华血液学杂志

Objective: To assess the significance of DDAVP use in the diagnosis and treatment of VWD. Methods: An analysis of 15 VWD cases who referred to Hematology Division of First affiliated Hospital of Soochow University and treated with DDAVP from March 2016 to August 2018 was conducted. Efficacy and treatment response of DDAVP were monitored by observations of changes in factor Ⅷ procoagulant (FⅧ∶C) and von Willebrand Factor (VWF) related indicators before and 2 h after DDAVP injection. Results: Of 15 cases with VWD, 7 males and 8 females with a median age of 23 (6-46) years, 7 of 9 type I VWD patients achieved complete response (CR) , 1 type 2A VWD case CR, 5 type 3 VWD ones no response (NR) . The VWF multimer analysis in 5 patients combined with other plasma VWF values were in accordance with the known diagnosis. Conclusions: DDAVP was effective in most type 1 patients, and ineffective in some type 2 and almost all type 3 cases. It was helpful for diagnosis and subsequent treatment planning.

Clinical observation of desmopressin in the treatment of 15 patients with DDAVP / 中华血液学杂志

Objective@#To assess the significance of DDAVP use in the diagnosis and treatment of VWD.@*Methods@#An analysis of 15 VWD cases who referred to Hematology Division of First affiliated Hospital of Soochow University and treated with DDAVP from March 2016 to August 2018 was conducted. Efficacy and treatment response of DDAVP were monitored by observations of changes in factor Ⅷ procoagulant (FⅧ∶C) and von Willebrand Factor (VWF) related indicators before and 2 h after DDAVP injection.@*Results@#Of 15 cases with VWD, 7 males and 8 females with a median age of 23 (6-46) years, 7 of 9 type I VWD patients achieved complete response (CR) , 1 type 2A VWD case CR, 5 type 3 VWD ones no response (NR) . The VWF multimer analysis in 5 patients combined with other plasma VWF values were in accordance with the known diagnosis.@*Conclusions@#DDAVP was effective in most type 1 patients, and ineffective in some type 2 and almost all type 3 cases. It was helpful for diagnosis and subsequent treatment planning.

Detection and analysis of plasma VWF levels in healthy Chinese by automatic standardized assay / 中华血液学杂志

Objective@#To explore the normal range of plasma VWF levels of healthy Chinese and to analyze the influencing factors to VWF level.@*Methods@#To detect the levels of von Willebrand factor antigen (VWF∶Ag) , von Willebrand factor ristocetin cofactor activity (VWF∶Rco) , von Willebrand factor collagen binding activity (VWF∶CB) , and the factor Ⅷ coagulation activity (FⅧ∶C) by using fully automatic and standardized testing instruments and matching reagent in 70 healthy Chinese. The effects of age, ABO blood type, gender and region were also analyzed. Meanwhile, 8 standard plasma samples (2 normal subjects, 6 cases of type 2 VWD) confirmed by NIBSC were tested for VWF values.@*Results@#① In 70 cases of healthy Chinese, the mean value of plasma VWF∶Ag, VWF∶Rco and VWF∶CB were (95.4±44.9) %, (105.9±35.4) % and (89.8±28.4) %, respectively; the ratio of VWF∶Rco/VWF∶Ag and VWF∶CB/VWF∶Ag was 1.18±0.25 and 1.03±0.29, respectively. ②There was no statistical significance in plasma VWF values between the age ≥30 years and <30 years group (P>0.05) . ③The VWF∶Rco, VWF∶CB of type O blood group were lower than that of non-O group (t=2.074, P=0.042; t=3.949, P=0.001) , but there was no statistical significance in VWF∶Ag, VWF∶Rco/VWF∶Ag, VWF∶CB/VWF∶Ag between the two groups (P>0.05) . ④There was no significant difference in VWF values between male and female groups (P>0.05) . ⑤The VWF∶Ag, VWF∶CB of the northern population (North area of Huaihe River) group were higher than that of southern population (Suzhou area) group (t=4.525, P=0.001; t=3.214, P=0.002) , but VWF∶Rco/VWF∶Ag, VWF∶CB/VWF∶Ag were lower than that of southern population group (t=6.373, P=0.001; t=2.902, P=0.005) , and there was no significant difference in VWF∶Rco between the two groups (t=1.598, P=0.115) . ⑥The VWF values of 8 standard plasma samples were in accordance with the known diagnosis.@*Conclusions@#A more integrate plasma VWF levels of healthy Chinese people were obtained for the first time by using fully automatic and standardized testing instruments. It was also found that ABO blood group and region had a significant impact on the level of VWF, while the age and gender had no significant effect.

Bone Density Status in Bleeding Disorders: Where Are We and What Needs to Be Done?

Bleeding disorders, including hemophilia, can be seen in every ethnic population in the world. Among various bleeding disorders, reduced bone density has been addressed in hemophilia A. In recent years, there has been an increasing interest in addressing osteopenia and osteoporosis in hemophilia A. There is little or no study about the possible susceptibility of other individuals with bleeding disorders to reduced bone density. Questions have been raised about the role of blood coagulation factors in bone mineralization. This review provides new insight and ideas for further survey in the field of bleeding disorders and reduced bone density.

Calidad de vida y hemofilia: Una revisión de la literatura / Quality of life and hemophilia: A literature review

La hemofilia es una enfermedad crónica y hasta el momento incurable, sin embargo, los avances médicos han permitido mayor sobrevida y mejor calidad de vida (CV) entre quienes la desarrollan. El objetivo de esta revisión es presentar la situación actual de la literatura científica sobre la CV en las personas con hemofilia, producida entre 2008-2012. Se encontró que las investigaciones se han centrado en los factores fisiológicos que afectan negativamente o protegen la CV de estas personas; no obstante, se evidencia la necesidad de atender también los factores psicosociales. Los instrumentos especializados para la evaluación de la CV en pacientes con hemofilia son escasos y las publicaciones revisadas se centran en la evaluación más que en la intervención de la CV. Al contrario de lo que sucede en otros países, en Colombia no se encontraron investigaciones sobre la CV en pacientes hemofílicos y por lo tanto se desconoce el impacto de esta enfermedad sobre la funcionalidad y el bienestar de estos pacientes.

Hemophilia is a chronic disease but medical advances have improved survival and quality of life among those who have developed it. The aim of this review is to present the current state of the literature on quality of life of people with hemophilia, produced between 2008 and 2012. It is found that the research has been focused on the physiological factors that adversely affect or protect the quality of life of these people; however, the evidence shows that it is also necessary to address the psychosocial factors. Specialized tools for assessing quality of life in hemophiliacs are few as well as empirical evaluation focuses on the operation rather than on the quality of life. Contrary to what happens in other countries, in Colombia there is no evidence of research on quality of life in patients with hemophilia and therefore the impact of this disease on the functionality and well-being of these patients is unknown.

Tooth loss and associated factors in patients with coagulopathies in the State of Paraiba, Brazil

BACKGROUND The most common and best known hereditary coagulopathies are hemophilia A and B followed by von Willebrand Disease. OBJECTIVE This study aimed to estimate the prevalence of tooth loss and investigate its association with demographic and socioeconomic data, as well as to discuss self-reported oral morbidity and use of health services by patients with coagulopathies treated in blood centers in Paraíba, Brazil. METHODS This was a quantitative cross-sectional epidemiological survey. Data was collected in the period from October 2011 to July 2012 by clinical examination and by assessing interviews using a semi-structured questionnaire. The findings were analyzed by descriptive and inferential statistics with the level of significance (α) being set at 10%. RESULTS One hundred and six, predominantly male (88.8%), patients with coagulopathies were evaluated. The ages ranged from one to 59 years. Most patients were of mixed race (61.3%), most reported family incomes between R$ 501.00 and R$ 1500.00 (49.1%), and most had not completed elementary school (37.1%). Hemophilia A was found in 76.4% of the cases. The prevalence of dental caries among individuals was 50.0% predominantly in the 13- to 19-year-old age range (66.7%). As regards to tooth loss, teeth were missing in 35.1% of the study participants. CONCLUSION Tooth loss is high in this population. Males with severe hemophilia A, those who use fluoride and have a good or very good perception about their last dental appointment have a reduced chance of losing their teeth.

Clinical Application and Evaluation of Preoperative Bleeding Tendency using Platelet Function Analyzer (PFA(R))-100

Routine preoperative tests such as BT/CT, PT/PTT and CBC, could not test abnormal hemostasis that take drugs and health functional food. We used platelet function analyzer (PFA(R))-100, to evaluate preoperative bleeding tendencies. From November 2008 to February 2010, 306 surgical patients were tested preoperative PFA in our hospital. There are 2 tests in PFA(R)-100. The Pre Operative EPI (collagen/epinephrine) assay tests extrinsic platelet function, whereas the Pre Operative ADP (collagen/adenosine diphosphate) assay tests intrinsic platelet function. We divided normal and abnormal groups by the PFA(R)-100 assay tests. If either of results were abnormal in the two tests, the patient was divided to the abnormal group. 306 surgical patients were observed with hemorrhagic complications. All of the patients were divided normal and abnormal groups by the PFA(R)-100 test result. The normal group was made up of 286 (93.5%) patients, the abnormal group was made up of 20 (6.5%) patients. We observed each group hemorrhage complication including sever echymosis and hematoma, and analyzed each group complication rate. There were 9 (3.1%) cases of complication in the normal group. There were 3 (15.0%) cases of complication in the abnormal group. To evaluate preoperative bleeding tendency, PFA(R)-100 can be complementary examination with previous routine blood coagulation tests.

Hematoma after augmentation mammaplasty in a patient with von Willebrand's disease / Hematoma após mamaplastia de aumento em paciente portadora de doença de von Willebrand

We present the case of a patient submitted to augmentation mammaplasty who developed 2 hematoma episodes as a result of von Willebrand's disease, which was not previously diagnosed. As a routine part of preoperative evaluation, the patient should always be tested for von Willebrand's disease. This disease affects 1-3 percent of the population and occurs twice as often as hemophilia. In our case, the patient recovered quite satisfactorily. Preventive and therapeutic approaches are discussed in this paper.

Os autores relatam o caso de uma paciente submetida a mamaplastia de aumento, não diagnosticada previamente como portadora de doença de von Willebrand, que teve dois episódios de hematoma no pós-operatório. Entre os distúrbios de coagulação, a doença de von Willebrand deve ser considerada na avaliação pré-operatória, pois afeta cerca de 1 por cento a 3 por cento da população, não é diagnosticada na maioria das pessoas, além de ser duas vezes mais frequente que a hemofilia. A paciente evoluiu bem no pós-operatório e medidas preventivas e terapêuticas são discutidas neste artigo.