Von Willebrand's disease: case report and review of literature

Abstract

Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL). Von willebrand factor is a complex multimeric protein with two functions: it forms a bridge between the platelets and areas of vascular damage and it binds to and stabilizes factor VIII, which is necessary for the clotting cascade. By taking a clinical history of bleeding (mucocutaneous bleeding symptoms suggestive of a primary haemostatic disorder, a quantitative or qualitative abnormality of VWF is possible) it is important to think about VWD and to make the appropriate diagnosis. If the VWD is suspected diagnostic tests should include an activated partial thromboplastin time, bleeding time, factor VIII: C Ristocetin cofactor and vWF antigen. Additional testing of ristocetin induced plattlet adhesion (RIPA) the multimeric structure and collagen binding test and genanalysis allow diagnosing the different types of von. Willebrand Disease. The treatment of choice in mild forms is the synthetic agent desmopressin. In patients with severe type 1, type 2B, 2N and type 3 or in people who do not response to desmopressin, the appropriate treatment is a factor VIII concentrate that is rich of VWF. We report a case of infant in 27-month-old boy who had been referred due to haemorrhagic shock. His birth histories, his familie's social history and developmental milestones were unremarkable. He was born at full term with no antenatal or perinatal complications. Prior to the symptoms, the child was on a normal diet and was thriving appropriately. The child presented one days before his admission trauma to the inner face of the lower lip that caused an external acute bleeding loss. The laboratory data showed unfortunately, the most severe form of Von Willebrand's Disease; Type 3. The management was based on erythrocyte and fresh-frozen plasma (FFP) transfusions with administration of factor VII with good evolution.

¿Qué avances recientes hay en el entendimiento, diagnóstico y tratamiento de la enfermedad de Von Willebrand?: una revisión de la literatura

“…La prevalencia del tipo 3 es de 1 a 5 por millón de habitantes en Europa, y de 3 por millón en Suecia e Israel (13). En Chile y Venezuela representan el 2,71, 1,75 por millón, respectivamente (14).…”

“…El FVW es sintetizado por células endoteliales y megacariocitos (20,23), almacenado en gránulos alfa y cuerpos de Weibel-Palade (23). Además, es modulado y clivado por las metaloproteinasas ADAMTS 13 al momento de entrar al torrente sanguíneo (14,20,24). La estructura de esta proteína comprende dominios de la A a la D, estos últimos involucrados en la regulación de la formación multimérica y su adhesión al FVIII de la coagulación.…”

The effect of warfarin, heparin, and modern directly acting oral anticoagulants (dabigatran etexilate, rivaroxaban, apixaban) on the level of coagulation factors: V, VII, VIII, IX, XII, WF

“…Фактор XII необходим для образования фибрина in vitro. Однако у пациентов с дефицитом фактора XII не наблюдаются клинически значимые кровотечения, несмотря на удлинение АЧТВ [55]. Фактически некоторые исследования подтверждают положение о связи между дефицитом фактора XII и повышенным риском тромбоза, возможно, из-за роли фактора XII в фибринолизе [2].…”

Inherited bleeding disorders

“…Background vWD is a common IBD affecting 1.3% of the population. [5,6] It is caused by a quantitative (reduced amount) or qualitative (abnormal function) deficiency in von Willebrand factor (vWF), combinations of which result in the various vWD subtypes (Table 3). vWF is synthesised by endothelial cells and megakaryocytes and is a complex…”

“…Patients with vWD types 2A, 2B and 3 usually require replacement therapy post-partum to prevent immediate or delayed haemorrhage. [5][6][7][8]…”