Spectrum of Inherited Bleeding Disorders in Indians

2005 ◽  
Vol 11 (3) ◽  
pp. 325-330 ◽  
Author(s):  
Meenal Gupta ◽  
Maitreyee Bhattacharyya ◽  
V. P. Choudhry ◽  
Renu Saxena
Keyword(s):  
Platelet Function ◽  
Indian Population ◽  
Hemophilia A ◽  
Ethnic Origin ◽  
Von Willebrand Disease ◽  
Hemorrhagic Disease ◽  
Bleeding Disorders ◽  
White Population ◽  
Hemorrhagic Disorders ◽  
Von Willebrand

The incidence of hereditary hemorrhagic disorders may vary according to the country and ethnic origin. Von Willebrand disease has emerged as the most common hereditary hemorrhagic disease in the industrialized world. In this series of 966 patients diagnosed to have inherited bleeding disorders, hemophilia A was the most common and was seen in 410 (42.4%) of the patients followed by platelet function defects seen in 380 (39.4%) of the patients. It is thus concluded that, similar to the white population, hemophilia A remains the most common bleeding disorder in the Indian population, although this is closely followed by platelet function defects in India, which are quite rare in whites. Von Willebrand disease is relatively rare in the Indian population.

Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders

2022 ◽  
Author(s):  
Akbar Dorgalaleh ◽  
Yadolah Farshi ◽  
Kamand Haeri ◽  
Omid Baradarian Ghanbari ◽  
Abbas Ahmadi
Keyword(s):  
Risk Factors ◽  
Intracerebral Hemorrhage ◽  
Platelet Function ◽  
Hemophilia A ◽  
Coagulation Factor ◽  
Von Willebrand Disease ◽  
Vacuum Extraction ◽  
Bleeding Disorders ◽  
Platelet Function Disorders ◽  
Von Willebrand

AbstractIntracerebral hemorrhage (ICH) is the most dreaded complication, and the main cause of death, in patients with congenital bleeding disorders. ICH can occur in all congenital bleeding disorders, ranging from mild, like some platelet function disorders, to severe disorders such as hemophilia A, which can cause catastrophic hemorrhage. While extremely rare in mild bleeding disorders, ICH is common in severe coagulation factor (F) XIII deficiency. ICH can be spontaneous or trauma-related. Spontaneous ICH occurs more often in adults, while trauma-related ICH is more prevalent in children. Risk factors that can affect the occurrence of ICH include the type of bleeding disorder and its severity, genotype and genetic polymorphisms, type of delivery, and sports and other activities. Patients with hemophilia A; afibrinogenemia; FXIII, FX, and FVII deficiencies; and type 3 von Willebrand disease are more susceptible than those with mild platelet function disorders, FV, FXI, combined FV–FVIII deficiencies, and type 1 von Willebrand disease. Generally, the more severe the disorder, the more likely the occurrence of ICH. Contact sports and activities can provoke ICH, while safe and noncontact sports present more benefit than danger. An important risk factor is stressful delivery, whether it is prolonged or by vacuum extraction. These should be avoided in patients with congenital bleeding disorders. Familiarity with all risk factors of ICH can help prevent occurrence of this diathesis and reduce related morbidity and mortality.

Platelet Disorders

2015 ◽  
Author(s):  
Lawrence L K Leung ◽  
James L. Zehnder
Keyword(s):  
Platelet Function ◽  
Clinical Manifestations ◽  
Von Willebrand Disease ◽  
Drug Induced ◽  
Excessive Bleeding ◽  
Vascular Integrity ◽  
Patient Reports ◽  
Platelet Function Disorders ◽  
Hemorrhagic Disorders ◽  
Von Willebrand

A bleeding disorder may be suspected when a patient reports spontaneous or excessive bleeding or bruising, often secondary to trauma. Possible causes can vary between abnormal platelet number or function, abnormal vascular integrity, coagulation defects, fibrinolysis, or a combination thereof. This review addresses hemorrhagic disorders associated with quantitative or qualitative platelet abnormalities, such as thrombocytopenia, platelet function disorders, thrombocytosis and thrombocythemia, and vascular purpuras. Hemorrhagic dis­orders associated with abnormalities in coagulation (e.g., von Willebrand disease and hemophilia) are not covered. An algorithm shows evidence-based practice guidelines for the management of immune thrombocytopenic purpura. Tables list questions regarding bleeding and bruising to ask patients, clinical manifestations of hemorrhagic disorders, typical results of tests for hemostatic function in bleeding disorders, causes of thrombocytopenia, other forms of drug-induced thrombocytopenia, classification of platelet function disorders, and selected platelet-modifying agents. This review contains ­1 highly rendered figure, 7 tables, and 82 references. 

scholarly journals How I treat patients with inherited bleeding disorders who need anticoagulant therapy

Blood ◽  
2016 ◽  
Vol 128 (2) ◽  
pp. 178-184 ◽  
Author(s):  
Karlyn Martin ◽  
Nigel S. Key
Keyword(s):  
Atrial Fibrillation ◽  
Hemophilia A ◽  
Thrombotic Event ◽  
Management Strategies ◽  
Von Willebrand Disease ◽  
Bleeding Disorders ◽  
Atherothrombotic Disease ◽  
Risk Of Hemorrhage ◽  
Evidence Based Guidelines ◽  
Von Willebrand

Abstract Situations that ordinarily necessitate consideration of anticoagulation, such as arterial and venous thrombotic events and prevention of stroke in atrial fibrillation, become challenging in patients with inherited bleeding disorders such as hemophilia A, hemophilia B, and von Willebrand disease. There are no evidence-based guidelines to direct therapy in these patients, and management strategies that incorporate anticoagulation must weigh a treatment that carries a risk of hemorrhage in a patient who is already at heightened risk against the potential consequences of not treating the thrombotic event. In this paper, we review atherothrombotic disease, venous thrombotic disease, and atrial fibrillation in patients with inherited bleeding disorders, and discuss strategies for using anticoagulants in this population using cases to illustrate these considerations.

scholarly journals Novel therapeutics for hemophilia and other bleeding disorders

Blood ◽  
2018 ◽  
Vol 132 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Michael U. Callaghan ◽  
Robert Sidonio ◽  
Steven W. Pipe
Keyword(s):  
Factor Viii ◽  
New Technologies ◽  
Hemophilia A ◽  
Coagulation Factor ◽  
Von Willebrand Disease ◽  
Bleeding Disorders ◽  
Routes Of Administration ◽  
New Approaches ◽  
Dosing Regimens ◽  
Von Willebrand

Abstract Hemophilia and von Willebrand disease are the most common congenital bleeding disorders. Treatment of these disorders has focused on replacement of the missing coagulation factor to prevent or treat bleeding. New technologies and insights into hemostasis have driven the development of many promising new therapies for hemophilia and von Willebrand disease. Emerging bypass agents including zymogen-like factor IXa and Xa molecules are in development and a bispecific antibody, emicizumab, demonstrated efficacy in a phase 3 trial in people with hemophilia A and inhibitors. Tissue factor pathway inhibitor, the protein C/S system, and antithrombin are targets of novel compounds in development to alter the hemostatic balance and new approaches using modified factor VIII molecules are being tested for prevention and eradication of inhibitor antibodies in hemophilia A. The first recombinant von Willebrand factor (VWF) product has been approved and has unique VWF multimer content and does not contain factor VIII. These new approaches may offer better routes of administration, improved dosing regimens, and better efficacy for prevention and treatment of bleeding in congenital bleeding disorders.

Congenital Bleeding Disorders

Hematology ◽  
2003 ◽  
Vol 2003 (1) ◽  
pp. 559-574 ◽  
Author(s):  
Margaret E. Rick ◽  
Christopher E. Walsh ◽  
Nigel S. Key
Keyword(s):  
Gene Transfer ◽  
Immune Tolerance ◽  
Hemophilia A ◽  
Tolerance Induction ◽  
Von Willebrand Disease ◽  
Bleeding Disorders ◽  
Immune Tolerance Induction ◽  
Inhibitor Development ◽  
History Of ◽  
Von Willebrand

Abstract Both clinical and basic problems related to the congenital bleeding disorders continue to confront hematologists. On the forefront are efforts to bring genetic correction of the more common bleeding disorders such as hemophilia A to the clinic in a safe and accessible manner. A second issue, particularly for patients with hemophilia, is the development of inhibitors—questions of how they arise and how to prevent and treat these problems that confound otherwise very successful replacement therapy and allow patients to maintain normal lifestyles. A third issue is the continuing question of diagnosis and management of von Willebrand disease, the most common congenital bleeding disorder, especially in individuals who have borderline laboratory values, but have a history of clinical bleeding. In Section I, Dr. Christopher Walsh discusses general principles of effective gene transfer for the hemophilias, specific information about viral vectors and non-viral gene transfer, and alternative target tissues for factor VIII and factor IX production. He highlights information about the immune response to gene transfer and reviews data from the hemophilia gene transfer trials to date. The future prospects for newer methods of therapy such as RNA repair and the use of gene-modified circulating endothelial progenitors are presented as possible alternatives to the more traditional gene therapy approaches. In Section II, Dr. Nigel Key focuses on inhibitor development in patients with hemophilia A. He reviews the progress in our understanding of the risk factors and presents newer information about the immunobiology of inhibitor development. He discusses the natural history of these inhibitors and the screening, laboratory diagnosis, and treatment, including the use of different modalities for the treatment of acute bleeding episodes. Dr. Key also presents information about the eradication of inhibitors by immune tolerance induction and reviews recent information from the international registries regarding the status and success of immune tolerance induction. In Section III, Dr. Margaret Rick discusses the diagnosis, classification, and management of von Willebrand disease. Attention is given to the difficulty of diagnosis in patients with mild bleeding histories and borderline laboratory test results for von Willebrand factor. She presents the value of different laboratory assays for both diagnosis and classification, and she relates the classification of von Willebrand disease to the choice of treatment and to the known genetic mutations. Practical issues of diagnosis and treatment, including clinical cases, will be presented.

scholarly journals Platelet Function Disorder Is More Common Than Von Willebrand Disease in Women with Inherited Bleeding Disorders: Report from a Public Sector University in Pakistan

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4937-4937
Author(s):  
Nazli Hossain ◽  
Tahir S. Shamsi ◽  
Arshi Naz ◽  
Sidra Abbas ◽  
Nazeer Khan
Keyword(s):  
Platelet Function ◽  
Conflicts Of Interest ◽  
Autosomal Recessive Inheritance ◽  
Marrow Transplant ◽  
Von Willebrand Disease ◽  
Factor Ix ◽  
Factor Vii ◽  
Cycle Duration ◽  
Bleeding Disorders ◽  
Von Willebrand

Abstract Introduction: Inherited bleeding disorders are an important cause of menorrhagia. Aim: To determine the prevalence of inherited bleeding disorders in women with menorrhagia in the absence of systemic and pelvic pathologies. Methods: The study period was from March 2013 to September 2018. It was carried out at the Department of Obstetrics & Gynecology, Unit II, Dow Medical College and Ruth Pfau KM Civil Hospital in Karachi. The laboratory investigations were carried out partly at Dow Diagnostic Research Laboratory and mainly at the National Institute of Blood Disease & Bone Marrow Transplant. Included in the study were young girls and women who presented with menorrhagia at menarche or in the later years of reproduction, with normal bimanual pelvic examination and pelvic ultrasound results. Results: Approximately 200 women with a mean menstrual cycle duration of 9.3+ 3.5 days were included. The mean age of the included patients was 32 years. Married women's partners were cousins in 50% of the women, while unmarried girls' parents were cousins in all cases. Platelet aggregation defect was presented in 33 (16.6%) women, von Willebrand disease in 26 (13.1%) women, factor IX deficiency in 20 (10%) women, combined defects in 29 (14.6%) women, and factor VII and VIII deficiencies in 4 and 11 (2%, 5.5%) women, respectively. Isolated defect with ADP, epinephrine, and collagen were decreased in 35 (17.6%), 41 (20%), and 33 (16%) women, respectively. Conclusion: Inherited bleeding disorders were a common cause of menorrhagia in our population. Consanguinity was frequently seen in these subjects. Except for some forms of VWD, all other disorders have an autosomal recessive inheritance pattern. After excluding gynecological and medical causes, a work up for inherited bleeding disorders should be advised. Keywords: menorrhagia, platelet function disorder, inherited bleeding disorders, Pakistan. Disclosures No relevant conflicts of interest to declare.

The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects

Blood ◽  
2014 ◽  
Vol 123 (12) ◽  
pp. 1905-1916 ◽  
Author(s):  
Giuseppe Colucci ◽  
Monika Stutz ◽  
Sophie Rochat ◽  
Tiziana Conte ◽  
Marko Pavicic ◽  
...  
Keyword(s):  
Platelet Function ◽  
Hemophilia A ◽  
Von Willebrand Disease ◽  
Drug Of Choice ◽  
Platelet Function Disorders ◽  
Key Points ◽  
Selective Enhancement ◽  
Von Willebrand ◽  
Primary Platelet

Key PointsDDAVP is the drug of choice for mild hemophilia A and von Willebrand disease and (by unclear mechanisms) for platelet function disorders. In vivo DDAVP selectively and markedly enhances the ability to form procoagulant platelets by enhancing intracellular Na+ and Ca2+ fluxes.

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