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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Haemophilia A, also known as classical haemophilia, is among the commonest of the bleeding disorders and is caused by an absence or low levels of factor VIIIc. Haemophilia B, or Christmas disease, is caused by a deficiency of factor IX. The two conditions present in a similar fashion clinically. Both are X-linked recessive disorders and a good family history enables a diagnosis to be made. Unexplained bruising and haemarthrosis, when the child is mobile, occasionally raise concerns regarding non-accidental injury. Von Willebrand’s disease is caused by a deficiency or abnormal function of von Willebrand factor and its most common form is inherited in autosomal dominant fashion. Epistaxis can be a recurring problem in this condition. Idiopathic thrombocytopaenic purpura is the commonest of the immune thrombocytopaenias in which there is an increased destruction of platelets. Bernard–Soulier’s syndrome is a congenital disorder in which there is a failure of platelet production.
Oedema, Haemorrhage and Thrombosis
Published in Jeremy R. Jass, Understanding Pathology, 2020
The term thrombosis describes the haemostatic process of platelet aggregation with concurrent formation of fibrin. It is also used to indicate the exaggerated process resulting in the formation of a pathological mass within the bloodstream. Physiological haemostasis and abnormal platelet aggregation differ quantitatively only. Platelets are small, non-nucleated, membrane-bound cytoplasmic fragments found within blood and formed by budding off from large multinucleated cells called megakaryocytes which are located within the bone marrow. They are of fundamental importance in the process of normal haemostasis. Endothelial injury leads to platelet adhesion (by the platelet adhesion molecule P-selectin) and aggregation, particularly upon exposure of the underlying basement membrane collagen. The adherent platelets attract more platelets by secreting ADP, thromboxane A2and serotonin. There is simultaneous activation of coagulation upon the platelet membrane which utilises fibrinogen released by the platelet. Additional factors serve to promote platelet aggregation, including thrombin and von Willebrand factor, the latter being released by damaged endothelial cells. Von Willebrand’s disease is a bleeding disorder resulting in deficiency of the factor and is inherited as an autosomal dominant trait. Platelet deficiency, affecting either numbers or function, is a further cause of bleeding disorders.
A Systematic Approach To The Diagnosis Of Bleeding Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
Bleeding may also be due to platelet dysfunction, i.e., Glanzmann’s thrombas-themia, uremia, and the dysproteinemias. von Willebrand’s disease is clearly a plasma protein defect, but this disorder presents with bleeding suggestive of a vascular or platelet function defect.2 Coagulation protein abnormalities, whether hereditary or acquired, may result from absent, decreased, or abnormal synthesis of a clotting factor, or the development of antibodies against these factors (circulating inhibitors or anticoagulants).
An evaluation of von Willebrand factor (recombinant) therapy for adult patients living with severe type 3 von Willebrand disease
Published in Expert Review of Hematology, 2023
John M. Hancock, Miguel A. Escobar
The vast majority of patients in the NCT02973087 rVWF prophylaxis trial had severe type 3 VWD with an average number ~6.5 spontaneous bleeds per year prior to starting on rVWF prophylaxis. Given the potentially improved efficacy and similar safety profile of rVWF prophylaxis compared to plasma-derived products, and the theoretical decreased (albeit small) risk of viral infection from plasma-derived products, it is possible that rVWF prophylaxis may represent a new standard of care for patients with type 3 VWD with a severe bleeding phenotype. More data is needed to show the efficacy and safety of rVWF used for prophylaxis for patients with type 1 and type 2 VWD with a severe bleeding phenotype. More recently, the new Guidelines on the Management of von Willebrand disease have been published and endorsed by ASH/ISTH/WFH/NHF. These guidelines are in favor of a secondary long-term prophylaxis with a von Willebrand Factor concentrate over no long-term prophylaxis for those patients with severe and frequent bleeding episodes [1].
Sudden-onset haemolacria in an adolescent girl
Published in Paediatrics and International Child Health, 2021
Ayla Akca Caglar, Halise Akca, Funda Kurt, Leman Akcan Yildiz, Pinar Nalcacioglu, Onur Buyukkoc, Emine Dibek Misirlioglu
To determine the cause, laboratory investigations were undertaken. A complete haemogram, prothrombin time, activated partial thromboplastin time, bleeding time and thyroid function test were normal. Laboratory tests for von Willebrand disease—von Willebrand factor ristocetin cofactor assay, von Willebrand factor antigen assay and Factor VIII activity assay—were also within normal limits. Computed tomography (CT) scan of the head and orbit to rule out a paranasal sinus-related pathology demonstrated mucosal thickening in the left fronto-ethmoidal recess at the base of the frontal sinus and polypoid mucosal thickening in the maxillary sinuses bilaterally. These findings did not explain the cause of the haemolacria, and the patient was diagnosed with idiopathic haemolacria. She was given empirical therapy with high-dose vitamin C (500 mg daily), prophylactic iron therapy and psychological support. In the first month, haemolacria occurred several times a day and each episode lasted for 10 minutes. During follow-up, there was spontaneous reduction in the frequency of symptoms. At the end of 4 months, the episodes occurred approximately once or twice a week and lasted for 3–5 minutes.
Overcoming the challenges of treating hemophilia in resource-limited nations: a focus on medication access and adherence
Published in Expert Review of Hematology, 2021
Kanjaksha Ghosh, Kinjalka Ghosh
Here the RLN should create a portfolio of different factor concentrates to suit their pocket. A small amount of extended half-life product may be included and about 10–20% of the budgeted fund for hemophilia care may be kept aside for management of patients with inhibitors, as unlike many developed countries prevalence of inhibitors in severe hemophilia patients are still low. Virally inactivated intermediate purity plasma derived product may still treat a large number of PWH in these countries in a cost effective manner. Some of these products can also be used to treat Von-willebrand disease patients. In many RLN countries other inherited so called rare bleeding disorders are not so rare and for many of these conditions concentrates are either not available or is difficult to include in the portfolio of these countries hence development of good transfusion service in these countries is a prerequisite. Safe plasma and cryoprecipitate from these services can be used to treat rare inherited plasmatic defect of blood coagulation. These blood banks can also provide required FFP and Cryoprecipitate to develop plasma fractionation centers in their own country or get the product contract fractionated from many giant fractionation centers in the world having spare capacity.