213 results match your criteria Hemophilia Overview


Acquired bleeding disorders.

Haemophilia 2020 Jun 1. Epub 2020 Jun 1.

Surgical Research Laboratory and Section of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Acquired bleeding disorders can accompany hematological, neoplastic, autoimmune, cardiovascular or liver diseases, but can sometimes also arise spontaneously. They can manifest as single factor deficiencies or as complex hemostatic abnormalities. This review addresses (a) acquired hemophilia A, an autoimmune disorder characterized by inhibitory autoantibodies against coagulation factor VIII; (b) acquired von Willebrand syndrome in patients with cardiovascular disorders, where shear stress abnormalities result in destruction of von Willebrand factor; and (c) liver function disorders that comprise complex changes in pro- and anti-hemostatic factors, whose clinical implications are often difficult to predict. Read More

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http://dx.doi.org/10.1111/hae.14033DOI Listing

Setting the scene: Historical overview of challenges and what led to advances in comprehensive care in developed countries, the Canadian experience.

Authors:
David Page

Haemophilia 2020 Apr;26 Suppl 3:4-5

Health Policy, Canadian Hemophilia Society, Montreal, QC, Canada.

The history of the development of comprehensive care for hemophilia and other inherited bleeding disorders in Canada has been long and full of challenges. From limited in-patient treatment with plasma and cryoprecipitate in a few major centres in the 1950s and 1960s, a network of Hemophilia Treatment Centres (HTCs) offering multi-disciplinary comprehensive care, home infusion and prophylaxis was established across the country by the late 1970s and early 1980s, only to be shaken by the widespread contamination of factor concentrates with HIV and HCV in the 1970s and 1980s. In recent years the mission of HTCs has expanded to better serve people with von Willebrand disease, rare factor deficiencies and other rare bleeding disorders, and more fully recognize the needs of women with bleeding disorders. Read More

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http://dx.doi.org/10.1111/hae.13885DOI Listing

octanate: over 20 years of clinical experience in overcoming challenges in haemophilia A treatment.

Ther Adv Hematol 2020 19;11:2040620720914692. Epub 2020 Apr 19.

Haemophilia Centre Rhine Main GmbH, Hessenring 13a, Geb. G, Mörfelden-Walldorf, 64546, Germany.

Treatment of haemophilia A with FVIII replacement has evolved over the past decades to adapt to the needs of patients. octanate®, a plasma-derived, double virus-inactivated, von Willebrand factor (VWF)-containing FVIII concentrate, has been used in clinics worldwide for over 20 years. First licensed in 1998 in Germany, octanate® is approved in over 80 countries for the prevention and treatment of bleeding and for surgical prophylaxis in patients with haemophilia A, and in over 40 countries for immune tolerance induction (ITI). Read More

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http://dx.doi.org/10.1177/2040620720914692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171997PMC

The experiences and attitudes of hemophilia carriers around pregnancy: A qualitative systematic review.

J Thromb Haemost 2020 Apr 9. Epub 2020 Apr 9.

Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

Background: Hemophilia carriers (HCs) face specific psychosocial challenges related to pregnancy, caused by their inherited bleeding disorder. Optimal support from healthcare providers can only be realized by exploring medical and psychological healthcare requirements.

Objective: To review all published evidence on the experiences and attitudes of HCs regarding reproductive decision-making, prenatal diagnosis, pregnancy, childbirth, and puerperium to provide an accessible overview of this information for health care providers. Read More

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http://dx.doi.org/10.1111/jth.14825DOI Listing

Hemophilia management: Huge impact of a tiny difference.

Res Pract Thromb Haemost 2020 Mar 28;4(3):377-385. Epub 2020 Feb 28.

Pediatric Hematology Amsterdam UMC Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands.

Hemophilia A and B are inherited X-linked disorders of hemostasis, associated with an increased bleeding tendency. Patients with severe hemophilia have undetectable clotting factor levels and experience spontaneous bleeds. In patients with nonsevere hemophilia, the clotting factor levels are 2% to 40% of normal and bleeds predominantly occur after provocative events such as trauma and surgery. Read More

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http://dx.doi.org/10.1002/rth2.12314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086468PMC

Physiological Roles of the von Willebrand Factor-Factor VIII Interaction.

Subcell Biochem 2020 ;94:437-464

Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Langenbeckstrasse 1, Building 708, 55131, Mainz, Germany.

Von Willebrand factor (VWF) and coagulation factor VIII (FVIII) circulate as a complex in plasma and have a major role in the hemostatic system. VWF has a dual role in hemostasis. It promotes platelet adhesion by anchoring the platelets to the subendothelial matrix of damaged vessels and it protects FVIII from proteolytic degradation. Read More

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http://dx.doi.org/10.1007/978-3-030-41769-7_18DOI Listing

Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.

Haemophilia 2020 Mar 31;26(2):216-227. Epub 2020 Jan 31.

Van Creveldkliniek, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.

Introduction: Women with inherited platelet receptor defects (IPRD) may have an increased risk of heavy menstrual bleeding (HMB) and postpartum haemorrhage (PPH).

Aim: To present a systematic overview of the literature on the prevalence and management of menstrual and obstetrical bleeding in women with IPRD.

Methods: Electronic databases were searched for original patient data on the prevalence and management of HMB and PPH in women with known IPRD or who were being investigated for IPRD. Read More

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http://dx.doi.org/10.1111/hae.13927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155109PMC

Fundamentals for a Systematic Approach to Mild and Moderate Inherited Bleeding Disorders: An EHA Consensus Report.

Hemasphere 2019 Oct 17;3(5):e286. Epub 2019 Sep 17.

Department of Medicine, Division of Heamtology-Oncology, University of North Carolina at Chapel Hill, NC, USA.

Healthy subjects frequently report minor bleedings that are frequently 'background noise' of normality rather than a true disorder. Nevertheless, unexpected or unusual bleeding may be alarming. Thus, the distinction between normal and pathologic bleeding is critical. Read More

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http://dx.doi.org/10.1097/HS9.0000000000000286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919472PMC
October 2019

Managing Preoperative Hemostasis in Patients with Inherited and Acquired Bleeding Disorders.

Semin Thromb Hemost 2020 Feb 30;46(1):17-25. Epub 2019 Dec 30.

Department of Haematology, Oxford University Hospitals NHS FT, Oxford, United Kingdom.

Inherited and acquired bleeding disorders pose significant hemostatic challenges for surgery. Patients at particular risk of bleeding include those with inherited bleeding disorders such as hemophilia, von Willebrand disease, and platelet function defects; those on antiplatelet agents or anticoagulants; and those with acquired conditions such as immune thrombocytopenic purpura, liver disease, or renal impairment. Each has its own specific challenges and close collaboration between the anesthetic, surgical, and hematology teams is crucial. Read More

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http://dx.doi.org/10.1055/s-0039-3402425DOI Listing
February 2020

The Horizon of Gene Therapy in Modern Medicine: Advances and Challenges.

Adv Exp Med Biol 2019 Dec 17. Epub 2019 Dec 17.

Cell Therapy and Regenerative Medicine Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

Gene therapy as a novel study in molecular medicine will have a significant impact on human health in the near future. In recent years, the scope of gene therapy has been developed and is now beginning to revolutionize therapeutic approaches. Accordingly, many types of diseases are now being studied and treated in clinical trials through various gene delivery vectors. Read More

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http://dx.doi.org/10.1007/5584_2019_463DOI Listing
December 2019

A Molecular Revolution in the Treatment of Hemophilia.

Mol Ther 2020 Apr 13;28(4):997-1015. Epub 2019 Nov 13.

Department of Pediatrics, Indiana University School of Medicine, IUPUI-Wells Center for Pediatric Research, Indianapolis, IN, USA; Laboratory of Glycobiology, Hirszfeld Institute of Immunology and Experimental Therapy, Wroclaw, Poland. Electronic address:

For decades, the monogenetic bleeding disorders hemophilia A and B (coagulation factor VIII and IX deficiency) have been treated with systemic protein replacement therapy. Now, diverse molecular medicines, ranging from antibody to gene to RNA therapy, are transforming treatment. Traditional replacement therapy requires twice to thrice weekly intravenous infusions of factor. Read More

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http://dx.doi.org/10.1016/j.ymthe.2019.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132613PMC

An overview of turoctocog alfa pegol (N8-GP; ESPEROCT ) assay performance: Implications for postadministration monitoring.

Haemophilia 2020 Jan 6;26(1):156-163. Epub 2019 Dec 6.

Novo Nordisk A/S, Måløv, Denmark.

Factor replacement therapy with factor VIII (FVIII) concentrates is the current standard of care for patients with haemophilia A. Postadministration monitoring of FVIII activity during on-demand or prophylactic treatment is important, for example to guide a suitable dosing regimen. While the use of two-stage chromogenic substrate (CS) assays is increasing, activated partial thromboplastin time (APTT)-based one-stage clotting (OSC) assays are most commonly used to measure FVIII activity in clinical laboratories. Read More

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http://dx.doi.org/10.1111/hae.13897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028088PMC
January 2020

The many roles of tranexamic acid: An overview of the clinical indications for TXA in medical and surgical patients.

Eur J Haematol 2020 Feb 16;104(2):79-87. Epub 2019 Dec 16.

Division of Hematology and Medical Oncology, Knight Cancer Institute, Oregon Health and Science University, Portland, Oregon.

Clinically significant bleeding can occur as a consequence of surgery, trauma, obstetric complications, anticoagulation, and a wide variety of disorders of hemostasis. As the causes of bleeding are diverse and not always immediately apparent, the availability of a safe, effective, and non-specific hemostatic agent is vital in a wide range of clinical settings, with antifibrinolytic agents often utilized for this purpose. Tranexamic acid (TXA) is one of the most commonly used and widely researched antifibrinolytic agents; its role in postpartum hemorrhage, menorrhagia, trauma-associated hemorrhage, and surgical bleeding has been well defined. Read More

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http://dx.doi.org/10.1111/ejh.13348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023891PMC
February 2020

Engineering IgG-Like Bispecific Antibodies-An Overview.

Antibodies (Basel) 2018 Aug 1;7(3). Epub 2018 Aug 1.

Protein Engineering and Antibody Technologies, Merck KGaA, Frankfurter Strasse 250, D-64293 Darmstadt, Germany.

Monoclonal antibody therapeutics have proven to be successful treatment options for patients in various indications. Particularly in oncology, therapeutic concepts involving antibodies often rely on the so-called effector functions, such as antibody dependent cellular cytotoxicity (ADCC) and complement dependent cytotoxicity (CDC), which are programed in the antibody Fc region. However, Fc-mediated effector mechanisms often seem to be insufficient in properly activating the immune system to act against tumor cells. Read More

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http://dx.doi.org/10.3390/antib7030028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6640676PMC
August 2018
3 Reads

Heat shock proteins in infection.

Clin Chim Acta 2019 Nov 19;498:90-100. Epub 2019 Aug 19.

Iranian Comprehensive Hemophilia Care Center, Tehran, Iran.

Heat shock proteins (HSPs) are constitutively expressed under physiological conditions in most organisms but their expression can significantly enhance in response to four types of stimuli including physical (e.g., radiation or heat shock), chemical and microbial (e. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00098981193200
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http://dx.doi.org/10.1016/j.cca.2019.08.015DOI Listing
November 2019
3 Reads

Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort.

Br J Haematol 2020 Jan 14;188(2):317-320. Epub 2019 Aug 14.

Hospices Civils de Lyon - Unite d'Hemostase Clinique, Hôpital Cardiologique Louis Pradel, Lyon, France.

This FranceCoag network study assessed 33 patients with congenital factor XIII (FXIII) deficiency presenting FXIII levels <10 iu/dl. Diagnosis was based on abnormal bleeding in 29 patients, a positive family history in 2, recurrent miscarriages in 1 and was fortuitous in 1. Eighteen patients (62·1%) presented life-threatening umbilical or intracranial haemorrhages (ICH). Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/bjh.16133
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http://dx.doi.org/10.1111/bjh.16133DOI Listing
January 2020
3 Reads

Addressing and proposing solutions for unmet clinical needs in the management of myeloproliferative neoplasm-associated thrombosis: A consensus-based position paper.

Blood Cancer J 2019 08 8;9(8):61. Epub 2019 Aug 8.

Center for the Study of Myelofibrosis, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.

This article presents the results of a group discussion among an ad hoc constituted Panel of experts aimed at highlighting unmet clinical needs (UCNs) in the management of thrombotic risk and thrombotic events associated with Philadelphia-negative myeloproliferative neoplasms (Ph-neg MPNs). With the Delphi technique, the challenges in Ph-neg MPN-associated thrombosis were selected. The most clinically relevant UCNs resulted in: (1) providing evidence of the benefits and risks of direct oral anticoagulants, (2) providing evidence of the benefits and risks of cytoreduction in patients with splanchnic vein thrombosis without hypercythemia, (3) improving knowledge of the role of the mutated endothelium in the pathogenesis of thrombosis, (4) improving aspirin dosing regimens in essential thrombocythemia, (5) improving antithrombotic management of Ph-neg MPN-associated pregnancy, (6) providing evidence for the optimal duration of anticoagulation for prophylaxis of recurrent VTE, (7) improving knowledge of the association between somatic gene mutations and risk factors for thrombosis, and (8) improving the grading system of thrombosis risk in polycythemia vera. Read More

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http://dx.doi.org/10.1038/s41408-019-0225-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687826PMC
August 2019
3 Reads

How we make an accurate diagnosis of von Willebrand disease.

Thromb Res 2019 Jul 16. Epub 2019 Jul 16.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy; Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan, Italy.

von Willebrand disease (VWD) is a common autosomally inherited hemorrhagic disorder mainly associated with mucocutaneous bleeding. VWD is due to quantitative (type 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF), a large multimeric plasma glycoprotein that plays a relevant role in hemostasis. VWF is essential to mediate platelet adhesion and aggregation at the sites of vascular injury under high shear stress conditions. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.07.010DOI Listing
July 2019
3 Reads

Executive summary of the NHLBI State of the Science (SOS) Workshop: Overview and next steps in generating a national blueprint for future research on factor VIII inhibitors.

Haemophilia 2019 Jul;25(4):610-615

Division of Blood Diseases and Resources, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/hae.13713DOI Listing
July 2019
9 Reads

Switching patients in the age of long-acting recombinant products?

Expert Rev Hematol 2019 ;12(sup1):1-13

g National Reference Centre for Haemophilia, Louis Pradel Hospital , University Claude Bernard Lyon I , Lyon , France.

: Prophylaxis with factor replacement therapy is the gold standard for the treatment of hemophilia, but this often requires frequent infusions. A number of long-acting factor products have been developed to reduce the burden on patients. : This is an overview of information presented at two symposia held at the World Federation of Hemophilia and International Society on Thrombosis and Haemostasis - Scientific and Standardization Committee annual meetings. Read More

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http://dx.doi.org/10.1080/17474086.2018.1564032DOI Listing
January 2019
4 Reads

The central role of thrombin in bleeding disorders.

Blood Rev 2019 11 22;38:100582. Epub 2019 May 22.

Department of Pathology, Duke University Medical Center, Durham, NC, USA. Electronic address:

Maintaining normal hemostasis relies on a regulated system of procoagulant and anticoagulant pathways, and disruption of these processes leads to the loss of hemostatic control, with the potential for excessive bleeding or thrombosis. Evaluation of bleeding disorders has conventionally been achieved by laboratory assays that measure the activity of individual coagulation factors. While such assays have proven effective for detecting abnormalities of the coagulation system and aiding diagnosis, inherent limitations prevent them from capturing a complete picture of hemostatic function. Read More

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http://dx.doi.org/10.1016/j.blre.2019.05.006DOI Listing
November 2019
5 Reads

Clinical Pharmacology Review of Plasma-derived and Recombinant Protein Products: CBER Experience and Perspectives on Model-Informed Drug Development.

Haemophilia 2019 Jul 26;25(4):e240-e246. Epub 2019 May 26.

Office of Biostatistics & Epidemiology, Center for Biologics Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland.

Introduction: Clinical pharmacology studies are one of the major types of regulatory data submitted for review of therapeutic proteins regulated by the Center for Biologics Evaluation and Research (CBER).

Aim: The primary objective of the current study is to provide an overview of the role of clinical pharmacology including pharmacokinetics (PK), pharmacodynamics (PD) and exposure-response analysis at CBER. Furthermore, we aim to provide a baseline estimate for the use of quantitative clinical pharmacology studies prior to implementation of FDA's model-informed drug development (MIDD) pilot programme. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/hae.13767
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http://dx.doi.org/10.1111/hae.13767DOI Listing
July 2019
7 Reads

Haemophilia Experiences, Results and Opportunities (HERO study) in Brazil: Assessment of the psychosocial effects of haemophilia in patients and caregivers.

Haemophilia 2019 Jul 21;25(4):640-650. Epub 2019 May 21.

IHTC "Cláudio L P Correa", INCT do Sangue, Hemocentro UNICAMP, University of Campinas, Campinas, Brazil.

Introduction: The international Haemophilia Experiences, Results and Opportunities (HERO) study assessed the psychosocial aspects of life for people with haemophilia (PWH) and their caregivers in several countries. Brazil was not included in this initiative.

Aim And Methods: An observational, multicentre, cross-sectional study was performed involving PWH (moderate-to-severe haemophilia) and their caregivers, from November 2014 to July 2015. Read More

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http://dx.doi.org/10.1111/hae.13774DOI Listing
July 2019
7 Reads

AAV-Mediated Gene Delivery to the Liver: Overview of Current Technologies and Methods.

Methods Mol Biol 2019 ;1950:333-360

Department of Pediatrics, Indiana University, Indianapolis, IN, USA.

Adeno-associated virus (AAV) vectors to treat liver-specific genetic diseases are the focus of several ongoing clinical trials. The ability to give a peripheral injection of virus that will successfully target the liver is one of many attractive features of this technology. Although initial studies of AAV liver gene transfer revealed some limitations, extensive animal modeling and further clinical development have helped solve some of these issues, resulting in several successful clinical trials that have reached curative levels of clotting factor expression in hemophilia. Read More

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http://dx.doi.org/10.1007/978-1-4939-9139-6_20DOI Listing
July 2019
9 Reads

Inhibitors: A Need for Eradication?

Acta Haematol 2019 15;141(3):151-155. Epub 2019 Feb 15.

Division of Hematology/Oncology, Department of Pediatrics and Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

The development of inhibitors against factor VIII (FVIII) concentrates represents a significant treatment complication for hemophilia. Immune tolerance induction (ITI) therapy eradicates inhibitors in 60-80% of patients, resulting in a normal FVIII response. This article, based on presentations at the 6th International Coagulation Meeting, held in Barcelona, Spain, in September 2017, provides an overview of management approaches for patients with inhibitors and briefly tabulates four cases of ITI therapy (first-line or rescue ITI therapy in pediatric and adult patients) with successful outcomes. Read More

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http://dx.doi.org/10.1159/000495454DOI Listing
October 2019
5 Reads

Heat-shock proteins in diagnosis and treatment: an overview of different biochemical and immunological functions.

Immunotherapy 2019 02;11(3):215-239

Department of Hepatitis & AIDS, Pasteur Institute of Iran, Tehran, Iran.

Heat-shock proteins (HSPs) have been involved in different functions including chaperone activity, protein folding, apoptosis, autophagy and immunity. The HSP families have powerful effects on the stimulation of innate immune responses through Toll-like receptors and scavenger receptors. Moreover, HSP-mediated phagocytosis directly enhances the processing and presentation of internalized antigens via the endocytic pathway in adaptive immune system. Read More

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https://www.futuremedicine.com/doi/10.2217/imt-2018-0105
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http://dx.doi.org/10.2217/imt-2018-0105DOI Listing
February 2019
31 Reads

Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.

Thromb Haemost 2019 Apr 5;119(4):594-605. Epub 2019 Feb 5.

Haemostasis Unit, Antwerp University Hospital, Edegem, Belgium.

Background:  von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult.

Objective:  A cross-sectional, family-based VWD study in a collaboration between University Hospital Brno (Czech Republic) and Antwerp University Hospital (Belgium) to improve the understanding of laboratory phenotype/genotype correlation. Read More

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http://dx.doi.org/10.1055/s-0039-1678528DOI Listing
April 2019
11 Reads

Thrombotic complications in adult patients with severe single coagulation factor or platelet defects - an overview.

Expert Rev Hematol 2019 02 28;12(2):119-128. Epub 2019 Jan 28.

a Section for Hematology, Department of Clinical Science , University of Bergen , Bergen , Norway.

Introduction: Even though thrombotic events are rare in patients with coagulation deficiencies, several cases of both arterial and venous thromboses have been reported in patients with single coagulation factor defects and platelet defects. Thromboses have been described both in hemophilia A and B, von Willebrand disease as well as in many other rare congenital coagulation factor and platelet defects. Thromboses may also occur in patients with acquired hemophilia and in patients with severe thrombocytopenia due to hematological malignancies or intensive chemotherapy. Read More

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http://dx.doi.org/10.1080/17474086.2019.1570126DOI Listing
February 2019
14 Reads

Prevention and Management of Bleeding Episodes in Patients with Acquired Hemophilia A.

Authors:
Paul Knöbl

Drugs 2018 Dec;78(18):1861-1872

Department of Medicine 1, Division of Hematology and Hemostasis, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.

Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies inhibiting the function of coagulation factor VIII. It is characterized by spontaneous bleeding in patients with no previous family or personal history of bleeding. Although several large registries have collected clinical data on AHA, limited information is available on the optimal management of AHA because controlled clinical trials are lacking. Read More

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http://link.springer.com/10.1007/s40265-018-1027-y
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http://dx.doi.org/10.1007/s40265-018-1027-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294818PMC
December 2018
29 Reads

Adherence to prophylactic haemophilic treatment in young patients transitioning to adult care: A qualitative review.

Haemophilia 2018 Nov;24(6):862-872

Pfizer, Ballerup, Denmark.

Recombinant prophylactic treatment (PTX) has greatly improved morbidity, mortality and health-related quality of life (HRQoL) in patients with severe haemophilia. Yet, treatment adherence appears suboptimal in adolescents and young adults with haemophilia (YWH). Young patients experience major biopsychosocial changes challenging their adherence through the transition from parental to self-care, from paediatric to adult care. Read More

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http://doi.wiley.com/10.1111/hae.13621
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http://dx.doi.org/10.1111/hae.13621DOI Listing
November 2018
37 Reads

Measurement of joint health in persons with haemophilia: A systematic review of the measurement properties of haemophilia-specific instruments.

Haemophilia 2019 Jan 14;25(1):e1-e10. Epub 2018 Nov 14.

Van Creveldkliniek, Department of Hematology, University Medical Center, Utrecht, The Netherlands.

Introduction: Accurate assessment of joint health in persons with haemophilia is crucial. Several haemophilia-specific measurement tools are available, but an overview of the measurement properties is lacking.

Aim: To provide an overview of the measurement properties of haemophilia-specific measurement tools to assess clinical joint health. Read More

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http://dx.doi.org/10.1111/hae.13631DOI Listing
January 2019
10 Reads

Platelet Signaling in Primary Haemostasis and Arterial Thrombus Formation: Part 1.

Hamostaseologie 2018 Nov 23;38(4):203-210. Epub 2018 Oct 23.

Division of Clinical and Experimental Hemostasis, Hemotherapy and Transfusion Medicine, University Blood Center, and Haemophilia Comprehensive Care Center, Institute of Transplantation Diagnostics and Cell Therapeutics, Heinrich Heine University Medical Center, Düsseldorf, Germany.

Platelets react immediately in response to traumatic vascular injury by adhesion, activation, aggregation and subsequent haemostatic plug formation. While this reaction pattern is essential for haemostasis, platelet responses can also cause occlusive thrombi in diseased arteries, leading to myocardial infarction or stroke. Initially, flowing platelets are captured from the circulation to vascular lesions. Read More

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http://dx.doi.org/10.1055/s-0038-1675144DOI Listing
November 2018
22 Reads

Anti-tissue factor pathway inhibitor (TFPI) therapy: a novel approach to the treatment of haemophilia.

Authors:
Pratima Chowdary

Int J Hematol 2020 Jan 9;111(1):42-50. Epub 2018 Oct 9.

KD Haemophilia and Thrombosis Centre, Royal Free London NHS Foundation Trust, London, UK.

Novel approaches to the treatment of haemophilia are needed due to the limitations of the current standard of care, factor replacement therapy. Aspirations include lessening the treatment burden and effectively preventing joint damage. Treating haemophilia by restoring thrombin generation may be an effective approach. Read More

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http://dx.doi.org/10.1007/s12185-018-2548-6DOI Listing
January 2020
9 Reads

In Vivo Genome Editing as a Therapeutic Approach.

Int J Mol Sci 2018 Sep 12;19(9). Epub 2018 Sep 12.

Disease Modeling and Therapeutics Laboratory, A*STAR Institute of Molecular and Cell Biology, 61 Biopolis Drive Proteos, Singapore 138673, Singapore.

Genome editing has been well established as a genome engineering tool that enables researchers to establish causal linkages between genetic mutation and biological phenotypes, providing further understanding of the genetic manifestation of many debilitating diseases. More recently, the paradigm of genome editing technologies has evolved to include the correction of mutations that cause diseases via the use of nucleases such as zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALENs), and more recently, Cas9 nuclease. With the aim of reversing disease phenotypes, which arise from somatic gene mutations, current research focuses on the clinical translatability of correcting human genetic diseases in vivo, to provide long-term therapeutic benefits and potentially circumvent the limitations of in vivo cell replacement therapy. Read More

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http://www.mdpi.com/1422-0067/19/9/2721
Publisher Site
http://dx.doi.org/10.3390/ijms19092721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163904PMC
September 2018
59 Reads

Diagnostic strategies in disorders of hemostasis.

Vnitr Lek Summer 2018;64(5):537-544

Hemostasis is a complicated biological system, where the balance between procoagulation and anticoagulation processes maintains fluidity of blood through intact blood vessels and creates thrombi when it is needed to prevent bleeding from the impaired vessels. The modern model of hemostasis is divided into 2 principal phases, the first being defined as primary hemostasis which involves the platelet-vessel interplay, while the second, defined as secondary hemostasis, mainly involves coagulation factors and surfaces of activated cells. The activation and amplification of the coagulation cascade is regulated by natural inhibitors of coagulation. Read More

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May 2019
15 Reads

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.

Authors:
N Lannoy C Hermans

Haemophilia 2018 Sep 8;24(5):711-719. Epub 2018 Aug 8.

Hemostasis and Thrombosis Unit, Hemophilia Clinic, Division of Hematology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

The distal Xq28 region is very gene-rich, comprising a relatively large number of low-copy repeats (LCRs) predisposing to genomic rearrangements. The best-known rearrangement at this locus is the F8 intron 22 inversion, responsible for up to 45% of severe hemophilia A (HA) cases. An additional inversion of intron 1 of F8 has more recently been described, affecting 2%-5% of patients with severe HA. Read More

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http://dx.doi.org/10.1111/hae.13569DOI Listing
September 2018
15 Reads

Preventing or Eradicating Factor VIII Antibody Formation in Patients with Hemophilia A: What Can We Learn from Other Disorders?

Semin Thromb Hemost 2018 Sep 25;44(6):531-543. Epub 2018 Jul 25.

Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.

Eradication of factor VIII (FVIII) specific neutralizing antibodies (also known as inhibitors) by the traditional method of immune tolerance induction (ITI) is costly and unsuccessful in one out of three patients. Furthermore, effective inhibitor prevention strategies are presently lacking. An overview is given in this narrative review of antidrug antibody prevention or eradication strategies that have been used in disorders beyond hemophilia A, with the aim of analyzing what we can learn from these strategies for hemophilia A. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1666823
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http://dx.doi.org/10.1055/s-0038-1666823DOI Listing
September 2018
48 Reads

Postanalytical considerations that may improve the diagnosis or exclusion of haemophilia and von Willebrand disease.

Haemophilia 2018 Nov 19;24(6):849-861. Epub 2018 Jul 19.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

von Willebrand disease (VWD) and haemophilia represent the most common inherited or acquired bleeding disorders. However, many laboratories and clinicians may be challenged by their accurate diagnosis or exclusion. Difficulties in diagnosis/exclusion may include analytical issues, where assays occasionally generate an incorrect result (ie representing an analytical error) or have limitations in their measurement range of and/or low analytical sensitivity. Read More

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http://dx.doi.org/10.1111/hae.13587DOI Listing
November 2018
9 Reads

Perioperative Management of Patients with Hemophilia during Spinal Surgery.

Asian Spine J 2018 Jun 4;12(3):442-445. Epub 2018 Jun 4.

Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Study Design: Single-center retrospective study.

Purpose: To optimize the perioperative management of patients with hemophilia who are undergoing spinal surgery.

Overview Of Literature: Hemophilia is a rare disease in which there is a tendency of bleeding because of a congenital deficiency in blood coagulation factor activity. Read More

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http://dx.doi.org/10.4184/asj.2018.12.3.442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002184PMC
June 2018
48 Reads

Auto- and alloantibodies against factor XIII: laboratory diagnosis and clinical consequences.

J Thromb Haemost 2018 05 23;16(5):822-832. Epub 2018 Mar 23.

Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

Acquired FXIII deficiencies caused by autoantibodies against FXIII subunits represent rare but very severe bleeding diatheses. Alloantibodies in FXIII-deficient patients also cause life-threatening bleeding complications, but they develop extremely rarely. In this review we provide an overview of the diagnosis and classification of anti-FXIII antibodies and analyze 48 patients with autoimmune FXIII deficiency and four additional FXIII-deficient patients who developed anti-FXIII alloantibody. Read More

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http://dx.doi.org/10.1111/jth.13982DOI Listing
May 2018
11 Reads

Preanalytical issues that may cause misdiagnosis in haemophilia and von Willebrand disease.

Haemophilia 2018 Mar 22;24(2):198-210. Epub 2017 Dec 22.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

von Willebrand disease (VWD) and haemophilia represent common inherited or acquired bleeding disorders, but many laboratories and clinicians continue to struggle with their diagnosis or exclusion. Difficulties in achieving a correct diagnosis or exclusion of VWD or haemophilia might be due to analytical issues. Sometimes assays may generate a wrong result (ie an analytical error) or may have limitations in their dynamic range of measurement and/or their level of low analytical sensitivity. Read More

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http://dx.doi.org/10.1111/hae.13396DOI Listing
March 2018
12 Reads

Orthopaedic procedures in haemophilia.

Clin Cases Miner Bone Metab 2017 May-Aug;14(2):197-199. Epub 2017 Oct 25.

Orthopaedic Clinic, Department of Medicine and Translational Medicine, University of Florence, Italy.

Haemophilia may nowadays be considered an "ortho paedic" disease given due to the involvement of musculoskeletal system in almost all haemophilic subjects. The modern haematological prophylaxis has dramatically improved the quality of life reducing bleedings and life-threatening complications; however, joint bleedings, progressive and irreversible arthropathy and osteoporosis are still now common challenging issues to be faced. One of the tissues involved by Haemophilia is the bone, particularly in the periarticular zone: poor bone quality and decrease of bone stock are typical patterns, and the worse is the arthropathy, the greater the bone loss. Read More

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http://dx.doi.org/10.11138/ccmbm/2017.14.1.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726209PMC
October 2017
11 Reads

A contemporary look at FVIII inhibitor development: still a great influence on the evolution of hemophilia therapies.

Expert Rev Hematol 2018 02 4;11(2):87-97. Epub 2018 Jan 4.

f St. George's Healthcare NHS Trust Haemophilia Centre , London , UK.

Introduction: The development of inhibitors against factor VIII (FVIII) replacement therapy remains the most important challenge for clinicians in the treatment of hemophilia patients. This review focusses on risk factors and management of FVIII inhibitors, particularly in light of SIPPET study findings and subsequent analyses. Areas covered: A brief history and evolution of hemophilia therapies is provided, including an overview of conventional and new (including investigational) therapeutic approaches for the treatment of hemophilia. Read More

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http://dx.doi.org/10.1080/17474086.2018.1419862DOI Listing
February 2018
21 Reads

Use of telehealth in the delivery of comprehensive care for patients with haemophilia and other inherited bleeding disorders.

Authors:
R Kulkarni

Haemophilia 2018 Jan 5;24(1):33-42. Epub 2017 Dec 5.

Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA.

Advances in technology such as telemedicine (TM) have made access to cost-effective, quality health care feasible for remote patients. TM is especially well suited for patients with chronic disorders such as haemophilia and related haemostatic disorders that benefit not only from more frequent interaction with care providers at a specialized haemophilia treatment center but also from consultations with other specialists. Telehealth refers to a broader application of TM and includes non-clinical services such as education, provider training, administrative meetings etc. Read More

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http://dx.doi.org/10.1111/hae.13364DOI Listing
January 2018
8 Reads

Measuring activities and participation in persons with haemophilia: A systematic review of commonly used instruments.

Haemophilia 2018 Mar 27;24(2):e33-e49. Epub 2017 Nov 27.

Department of Child Development and Exercise, University Medical Center Utrecht and Children's Hospital, Utrecht University, The Netherlands.

Introduction: Monitoring clinical outcome in persons with haemophilia (PWH) is essential in order to provide optimal treatment for individual patients and compare effectiveness of treatment strategies. Experience with measurement of activities and participation in haemophilia is limited and consensus on preferred tools is lacking.

Aim: The aim of this study was to give a comprehensive overview of the measurement properties of a selection of commonly used tools developed to assess activities and participation in PWH. Read More

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http://dx.doi.org/10.1111/hae.13367DOI Listing
March 2018
7 Reads

Emicizumab, a bispecific antibody recognizing coagulation factors IX and X: how does it actually compare to factor VIII?

Blood 2017 12 17;130(23):2463-2468. Epub 2017 Oct 17.

INSERM, Unité Mixte de Recherche S1176, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

During the last decade, the development of improved and novel approaches for the treatment of hemophilia A has expanded tremendously. These approaches include factor VIII (FVIII) with extended half-life (eg, FVIII-Fc and PEGylated FVIII), monoclonal antibodies targeting tissue factor pathway inhibitor, small interfering RNA to reduce antithrombin expression and the bispecific antibody ACE910/emicizumab. Emicizumab is a bispecific antibody recognizing both the enzyme factor IXa and the substrate factor X. Read More

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http://dx.doi.org/10.1182/blood-2017-08-801662DOI Listing
December 2017
69 Reads

Factor XIII deficiency diagnosis: Challenges and tools.

Int J Lab Hematol 2018 Feb 13;40(1):3-11. Epub 2017 Oct 13.

Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA.

Factor XIII deficiency (FXIIID) is a rare hereditary bleeding disorder arising from heterogeneous mutations, which can lead to life-threatening hemorrhage. The diagnosis of FXIIID is challenging due to normal standard coagulation assays requiring specific FXIII assays for diagnosis, which is especially difficult in developing countries. This report presents an overview of FXIIID diagnosis and laboratory methods and suggests an algorithm to improve diagnostic efficiency and prevent missed or delayed FXIIID diagnosis. Read More

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http://dx.doi.org/10.1111/ijlh.12756DOI Listing
February 2018
18 Reads

Perioperative Use of Coagulation Factor Concentrates in Patients Undergoing Cardiac Surgery.

J Cardiothorac Vasc Anesth 2017 Oct 10;31(5):1810-1819. Epub 2017 May 10.

Department of Anesthesiology and Perioperative Medicine, Mayo Clinic College of Medicine and Science, Rochester, MN.

Coagulopathy and bleeding are common in patients undergoing cardiac surgery, with a perioperative transfusion rate in excess of 50%. The mechanism of coagulopathy associated with cardiac surgery using cardiopulmonary bypass is multifactorial. Historically, coagulation factor-mediated bleeding in such instances has been treated with allogeneic plasma transfusion. Read More

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http://dx.doi.org/10.1053/j.jvca.2017.05.017DOI Listing
October 2017
15 Reads

Perioperative management of haemophilia B: A critical appraisal of the evidence and current practices.

Haemophilia 2017 Nov 27;23(6):821-831. Epub 2017 Jul 27.

Oxford University Hospitals NHS Trust, Oxford Haemophilia Centre, Oxford, UK.

Background: While there is substantial literature addressing the principles of general management of haemophilia, literature on perioperative management of haemostasis is scarce.

Objective: The aim of this study was to better understand perioperative management among congenital haemophilia B patients (without inhibitors) and to gain insights into real-world surgical practices.

Method: A systematic literature review, with an emphasis on haemophilia B, was conducted using EMBASE , Medline and the Cochrane Library. Read More

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http://dx.doi.org/10.1111/hae.13279DOI Listing
November 2017
15 Reads

[Activated Factor VII - 31 years experience on clinical grounds].

Authors:
Miklós Udvardy

Orv Hetil 2017 Jun;158(24):923-928

Belgyógyászat Intézet, Hematológia Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.

The author provides an overview of the use of recombinant activated FVII (rFVIIa, Novoseven), which is used over 30 years, based upon international publications and also on some modest own experience. Standard, approved indications (inhibitory cases, Glanzmann thrombasthenia, prophylaxis experience) are in the focus of this paper, emphasizing the specially rapid and efficacious way of Novoseven therapy, drawing attention to excellent safety issues regarding very low immunogenicity along with low number of thrombogenic complications. A careful, cautious and critical evaluation of Novoseven therapy is also provided in rather special forms of critical bleeding conditions considering international recommendations and institutional registry data. Read More

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http://dx.doi.org/10.1556/650.2017.30758DOI Listing
June 2017
26 Reads