Clinical Spectrum of Von Willebrand Disease Among Children: Frequency, Management, and Outcomes in Assiut Governorate
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Clinical Bleeding Patterns in Children With Von Willebrand Disease
研究概览
简要总结
Von Willebrand disease (VWD) is the most common inherited bleeding disorder in children. It occurs due to a deficiency or dysfunction of von Willebrand factor, a protein that plays an essential role in blood clotting. Children with VWD may experience frequent nosebleeds, easy bruising, prolonged bleeding after injuries or surgeries, and, in adolescent girls, heavy menstrual bleeding. The severity of symptoms varies widely depending on the type of the disease and the level of the clotting factor.
Despite its clinical importance, data about the frequency, clinical presentation, and treatment outcomes of von Willebrand disease among children in Upper Egypt are limited. Early recognition and appropriate management are crucial to prevent complications, reduce hospital visits, and improve quality of life.
This observational study aims to assess the frequency of von Willebrand disease among children attending Assiut University Children's Hospital, describe the different disease subtypes, and evaluate the clinical bleeding patterns and management strategies used in routine practice. The study will include children aged 0-18 years with suspected or confirmed VWD.
Information will be collected from medical records and clinical evaluations, including bleeding symptoms, laboratory test results, disease classification, and treatment approaches. The results of this study are expected to improve understanding of von Willebrand disease in children in this region and support better diagnostic and therapeutic planning for affected patients.
详细描述
Von Willebrand disease (VWD) is the most common inherited bleeding disorder worldwide and represents a significant cause of mucocutaneous bleeding in children. It results from quantitative or qualitative defects of von Willebrand factor (VWF), a glycoprotein that plays a key role in platelet adhesion and stabilization of factor VIII. VWD is classified into three main types according to International Society on Thrombosis and Hemostasis (ISTH) criteria: type 1 (partial quantitative deficiency), type 2 (qualitative defects with several subtypes), and type 3 (severe quantitative deficiency).
The clinical presentation of VWD in children is highly variable and may include epistaxis, easy bruising, gingival bleeding, prolonged bleeding after minor trauma or surgery, and menorrhagia in adolescent females. The severity and frequency of bleeding episodes are influenced by disease subtype, VWF levels, age, and associated conditions. In pediatric populations, diagnosis may be delayed or missed due to mild symptoms, age-related physiological variations in VWF levels, and limited awareness.
This study is designed as a descriptive retrospective-prospective observational study conducted at Assiut University Children's Hospital. The target population includes children aged 0-18 years with suspected or confirmed von Willebrand disease who are residents of Assiut Governorate or receive care at the study center. Patients with other inherited or acquired bleeding disorders will be excluded.
During the retrospective phase, medical records of previously diagnosed VWD patients will be reviewed to collect demographic data, family history, clinical presentation, laboratory findings, disease subtype, treatment received, and documented outcomes. In the prospective phase, children presenting with bleeding symptoms suggestive of VWD will undergo standardized clinical assessment, including a structured bleeding questionnaire and physical examination, followed by laboratory evaluation.
Laboratory investigations will include complete blood count, coagulation profile, VWF antigen level, VWF activity, and factor VIII activity, with additional specialized testing when available. Disease classification will be performed according to ISTH guidelines.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 0-18 years.
- •Residents of Assiut Governorate or receiving care at Assiut University Children's Hospital.
- •Suspected or confirmed von Willebrand disease (VWD) based on clinical bleeding symptoms or referral for evaluation.
- •Patients diagnosed with VWD using standard laboratory tests, including:
- •VWF antigen (VWF:Ag).
- •VWF ristocetin cofactor activity (VWF:RCo).
- •Factor VIII activity.
排除标准
- •Other inherited bleeding disorders, such as:
- •Hemophilia A or B.
- •Rare coagulation factor deficiencies (e.g., factors I, V, VII, X, XI deficiency).
- •Platelet function disorders.
- •Acquired bleeding disorders, including:
- •Liver disease.
- •Renal insufficiency.
- •Vitamin K deficiency.
- •Disseminated intravascular coagulation (DIC).
- •Use of medications that may interfere with coagulation testing (e.g., anticoagulants, antiplatelet drugs).
- •Incomplete clinical or laboratory data (for retrospective cases).
- •Refusal of consent for participation (for prospective cases).
研究组 & 干预措施
On-Demand Therapy Group
This cohort includes children with confirmed von Willebrand disease who receive treatment only during active bleeding episodes or prior to invasive procedures. Management is based on clinical indication and routine care practices, without scheduled prophylactic therapy. Bleeding frequency, treatment response, and short-term outcomes are documented during follow-up.
干预措施: Tranexamic Acid (Drug)
On-Demand Therapy Group
This cohort includes children with confirmed von Willebrand disease who receive treatment only during active bleeding episodes or prior to invasive procedures. Management is based on clinical indication and routine care practices, without scheduled prophylactic therapy. Bleeding frequency, treatment response, and short-term outcomes are documented during follow-up.
干预措施: Von Willebrand Factor-Containing Concentrates (Drug)
Prophylaxis Therapy Group
This cohort includes children with von Willebrand disease who experience recurrent, severe, or clinically significant bleeding and therefore receive regular prophylactic treatment with von Willebrand factor-containing concentrates. Patients are followed prospectively to assess bleeding frequency, treatment effectiveness, and clinical outcomes under scheduled preventive therapy.
干预措施: Tranexamic Acid (Drug)
Prophylaxis Therapy Group
This cohort includes children with von Willebrand disease who experience recurrent, severe, or clinically significant bleeding and therefore receive regular prophylactic treatment with von Willebrand factor-containing concentrates. Patients are followed prospectively to assess bleeding frequency, treatment effectiveness, and clinical outcomes under scheduled preventive therapy.
干预措施: Von Willebrand Factor-Containing Concentrates (Drug)
结局指标
主要结局
Clinical Bleeding Patterns in Children With Von Willebrand Disease
时间窗: at enrollment.
Assessment of bleeding manifestations, including epistaxis, bruising, mucosal bleeding, postsurgical bleeding, and menorrhagia, using standardized clinical evaluation and bleeding assessment tools.
Frequency of Von Willebrand Disease Among Investigated Children
时间窗: at enrollment
The proportion of children diagnosed with von Willebrand disease among those evaluated for suspected bleeding disorders at Assiut University Children's Hospital.
Distribution of Von Willebrand Disease Subtypes
时间窗: Within 2 weeks of enrollment
Classification and relative frequency of von Willebrand disease types (Type 1, Type 2, and Type 3) according to ISTH diagnostic criteria based on laboratory findings.
次要结局
未报告次要终点
研究者
Ali Maher Ebied Maher
resident at pediatric department
Assiut University