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Mild bleeding disorders

Cécile Lavenu-Bombled, Corinne Guitton, Arnaud Dupuis, Marie-Jeanne Baas, Céline Desconclois, Marie Dreyfus, Renhao Li, Claudine Caron, Christian Gachet, Edith Fressinaud, François Lanza
Interaction between von Willebrand factor (VWF) and platelet GPIbα is required for primary haemostasis. Lack or loss-of-function in the ligand-receptor pair results in bleeding complications. Paradoxically, gain-of-function mutations in VWF or GPIbα also results in bleeding complications as observed in type 2B von Willebrand disease (VWD) and platelet-type- (PT-) VWD, respectively. A similar phenotype is observed with increased ristocetin-induced platelet agglutination and disappearance of the highest molecular weight multimers of VWF...
September 29, 2016: Thrombosis and Haemostasis
M A Dasi, R Gonzalez-Conejero, S Izquierdo, J Padilla, J L Garcia, N Garcia-Barberá, B Argilés, M E de la Morena-Barrio, J M Hernández-Sánchez, J M Hernández-Rivas, V Vicente, J Corral
BACKGROUND: Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in γ-glutamyl carboxylase (GGCX) or vitamin K-epoxide reductase (VKORC1) with great heterogeneity both in terms of clinical presentation and response to treatment. OBJECTIVE: To characterize the molecular basis of VKCFD in a Spanish family. METHODS & RESULTS: Sequencing of candidate genes, comparative genomic hybridization and massive sequencing identified a new mechanism causing VKCFD in the proband...
September 28, 2016: Journal of Thrombosis and Haemostasis: JTH
Emily Reynen, Paula James
von Willebrand disease (VWD) is a common, inherited bleeding disorder. There are three main types of VWD, which result in a quantitative or qualitative deficiency in von Willebrand factor (VWF) and in severe cases, also Factor VIII (FVIII). The severity of bleeding depends on the underlying pathophysiology. Type 1 VWD is usually mild, while types 2 or 3 VWD can be associated with moderate or significant bleeding. Managing pregnant women with VWD requires a multidisciplinary approach. Such patients are at increased risk of postpartum hemorrhage...
September 20, 2016: Seminars in Thrombosis and Hemostasis
Danielle Nance, Robert A Campbell, Jesse W Rowley, Jonathan M Downie, Lynn B Jorde, Walter H Kahr, Sarah A Mereby, Neal D Tolley, Guy A Zimmerman, Andrew S Weyrich, Matthew T Rondina
BACKGROUND: Inherited human variants that concurrently cause disorders of primary hemostasis and coagulation are uncommon. Nevertheless, rare cases of co-existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. OBJECTIVE: We prospectively sought to determine pathogenic variants in a three-generational pedigree with excessive bleeding. PATIENTS/METHODS: Platelet number, size, and light transmission aggregometry to multiple agonists were evaluated in pedigree members...
September 14, 2016: Journal of Thrombosis and Haemostasis: JTH
J A Gutiérrez-García, M Sierra-Pérez, R A García-Velazco, C A Salas-Mora, V M Cisneros-González
Comparison of immediate postoperative results of patients undergoing cemented total knee arthroplasty with and without ischemia. Observational, cross-sectional, retrospective, analytical, single-center study that included 180 patients who underwent total knee arthroplasty from 2011 to 2014: 120 without ischemia, 60 with ischemia. Mean age was 70 years with SD ± 7. Criteria to assess the immediate postoperative results include intraoperative bleeding, hemoglobin differential and pain. Exclusion criteria comprised patients being treated at a pain clinic, those on anticoagulants, with a history of bleeding disorders, psychiatric conditions, kidney failure or those intolerant to NSAIDs...
January 2016: Acta Ortopédica Mexicana
Vandana Kamath, Kiruthiga Kala Gnanasekaran, Joy Mammen
OBJECTIVE/BACKGROUND: May-Hegglin anomaly (MHA) is a rare familial bleeding disorder characterized by a triad of thrombocytopenia, giant platelets, and Döhle-like inclusion bodies within the leukocytes. The clinical spectrum as well as the pathophysiology of this entity is not well defined. The objective of this work is to present a series of three cases of MHA diagnosed in our hospital, where the patients presented with variable bleeding manifestations, thrombocytopenia, and giant platelets...
September 2, 2016: Hematology/oncology and Stem Cell Therapy
Y Xu, M Deforest, J Grabell, W Hopman, P James
INTRODUCTION: von Willebrand disease (VWD) is the most common inherited bleeding disorder known in humans. Currently, studies investigating the health-related quality of life (HR-QoL) in VWD using standardized tools are limited, particularly among patients with mild decreases in von Willebrand factor or activity. AIM: To determine HR-QoL and its predictors among patients with mild, moderate and severe forms of VWD. METHODS: Patients with clinical diagnosis of VWD were recruited from a tertiary Inherited Bleeding Disorder Clinic...
September 9, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
J M Johnsen
Inherited bleeding disorders are both common and challenging to diagnose, particularly when the disorder is mild (reviewed in references [1, 2]). Most mild bleeding disorder patients are not routinely bleeding in their daily lives, and it can be difficult to differentiate bleeding events common in healthy populations from events which rise to the level of pathology. Fundamental to the diagnosis of bleeding disorders is a detailed assessment of the history of the patient and the family. This article is protected by copyright...
September 8, 2016: Journal of Thrombosis and Haemostasis: JTH
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
V Bouskill, P Hilliard, S Stephens, C Zhang, K Whitney, M Carcao
INTRODUCTION: Haemophilia is a bleeding disorder characterized by musculoskeletal bleeding. Trauma-induced bleeding into joints and muscles may be associated with participation in physical activities. Recognizing this, persons with haemophilia may limit physical activities to avoid bleeding. The characterization of physical activity profiles (type, intensity, frequency and duration) in children with differing severities of haemophilia has not been well documented. This is required to better understand the relationship between physical activity and bleeding in children with haemophilia...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
Peter W Collins, Melinda Hamilton, Frank D Dunstan, Sabine Maguire, Diane E Nuttall, Ri Liesner, Angela E Thomas, John Hanley, Elizabeth Chalmers, Victor Blanchette, Alison M Kemp
OBJECTIVE: The extent that inherited bleeding disorders affect; number, size and location of bruises in young children <6 years. DESIGN: Prospective, longitudinal, observational study. SETTING: Community. PATIENTS: 105 children with bleeding disorders, were compared with 328 without a bleeding disorder and classified by mobility: premobile (non-rolling/rolling over/sitting), early mobile (crawling/cruising) and walking and by disease severity: severe bleeding disorder factor VIII/IX/XI <1 IU/dL or type 3 von Willebrand disease...
July 22, 2016: Archives of Disease in Childhood
A B Federici
UNLABELLED: von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of von Willebrand factor (VWF). VWD is inherited in an autosomal dominant or recessive pattern, but women are apparently more symptomatic. Diagnosis of VWD is still difficult in most countries due to the multiple activities of VWF and the heterogeneity of the disease. VWD is mainly associated with mild mucosal bleeding although gastrointestinal and joint bleeds may occur in severe VWD forms...
May 2016: International Journal of Laboratory Hematology
Jun-Ichi Suzuki, Yasushi Imai, Mieko Aoki, Daishi Fujita, Norifumi Takeda, Norio Aoyama, Kouji Wakayama, Yuichi Ikeda, Hidetoshi Kumagai, Hiroshi Akazawa, Yuichi Izumi, Mitsuaki Isobe, Issei Komuro, Yasunobu Hirata
Marfan syndrome (MFS) is a systemic connective tissue disorder that is caused by mutations of fibrillin-1. While MFS patients are at a high risk of periodontitis and aortic diseases, little causal information has been provided to date. To clarify the relationship, their oral condition and sinus of Valsalva (SoV) were evaluated.The subjects were patients with MFS (n = 33) who attended the University of Tokyo Hospital. We divided them into two groups; MFS patients with highly dilated (the diameters were equal to or more than 39 mm) SoV (high group, n = 18) and MFS patients with mildly dilated (less than 39 mm) SoV (mild group, n = 15)...
July 27, 2016: International Heart Journal
J A Mason, J D Robertson, J McCosker, B A Williams, S A Brown
INTRODUCTION: Despite the availability of subcutaneous desmopressin (1-deamino-8-d-arginine vasopressin, SC-DDAVP) as a haemostatic agent for children with mild bleeding disorders, few publications specifically address the safety or efficacy of this mode of administration. AIM: Our aim was to assess whether a defined fluid restriction protocol was effective in preventing hyponatremia in children receiving perioperative SC-DDAVP, and to document adequate biological and clinical response in this setting...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
Rubén J Lopez, Susan Byrne, Mirko Vukcevic, Marijana Sekulic-Jablanovic, Lifen Xu, Marijke Brink, Jay Alamelu, Nicol Voermans, Marc Snoeck, Emma Clement, Francesco Muntoni, Haiyan Zhou, Aleksandar Radunovic, Shehla Mohammed, Elizabeth Wraige, Francesco Zorzato, Susan Treves, Heinz Jungbluth
Malignant hyperthermia is a potentially fatal hypermetabolic disorder triggered by halogenated anesthetics and the myorelaxant succinylcholine in genetically predisposed individuals. About 50% of susceptible individuals carry dominant, gain-of-function mutations in RYR1 [which encodes ryanodine receptor type 1 (RyR1)], though they have normal muscle function and no overt clinical symptoms. RyR1 is predominantly found in skeletal muscle but also at lower amounts in immune and smooth muscle cells, suggesting that RYR1 mutations may have a wider range of effects than previously suspected...
2016: Science Signaling
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L Balduini, Alessandro Pecci, Anna Savoia
ETV6-related thrombocytopenia (ETV6-RT) is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematological malignancies. To gain further information on this disorder, we searched for ETV6 mutations in the 130 families with inherited thrombocytopenia of unknown origin from our cohort of 274 consecutive pedigrees with familial thrombocytopenia. We identified 20 ETV6-RT patients from 7 pedigrees. They have 5 different ETV6 variants, including three novel mutations affecting the highly conserved E26 transformation-specific domain...
June 30, 2016: Haematologica
Ruchika Sharma, Joseph R Stanek, Terah L Koch, Linda Grooms, Sarah H O'Brien
Menstruating women, with or without underlying bleeding disorders, are at increased risk for developing iron deficiency-related fatigue, even in the absence of anemia. Oral iron therapy has limitations which include poor absorption and non-adherence due to gastrointestinal side effects. We performed a prospective clinical trial of post-menarchal adolescent females with iron-deficiency with or without mild anemia and fatigue who received a standardized regimen of intravenous iron sucrose. The baseline mean (SD) hemoglobin was 11...
October 2016: American Journal of Hematology
Fabien Selle, Chloé James, Marie Tuffigo, Xavier Pillois, Jean-François Viallard, Marie-Christine Alessi, Mathieu Fiore
Platelet δ-storage pool disease (δ-SPD) is a platelet function disorder characterized by a reduction in the number or content of dense granules. Reports on δ-SPD are mostly limited to case presentations. We aimed to retrospectively describe a series of patients with δ-SPD to better characterize the disease. We studied 16 patients with congenital or acquired δ-SPD. Lumiaggregometry, α- and δ-granules content, platelet ultrastructure, αIIbβ3 integrin, and glycoprotein Ib (GPIb) activation were assessed...
June 15, 2016: Seminars in Thrombosis and Hemostasis
Deniz Aslan
Inherited giant platelet disorders are a subgroup of congenital thrombocytopenias characterized by decreased platelet counts along with macroplatelets and variable bleeding symptoms. Harris platelet syndrome, a newly described rare entity, is a subtype of inherited giant platelet disorders and is characterized by mild-to-severe thrombocytopenia, macroplatelets, and no bleeding manifestations. This entity was observed incidentally in healthy blood donors from India in the early 2000s, and the reported cases to date have without exception originated from the same region of the Indian subcontinent...
June 13, 2016: Journal of Pediatric Hematology/oncology
Giorgia Saccullo, Mike Makris
Although in most cases von Willebrand disease (VWD) is a mild disorder, a subgroup of patients experience frequent bleeding. In contrast to severe hemophilia in which prophylaxis is the accepted standard of care, this is less frequently used in VWD. Most type 1 VWD patients can be adequately managed with episodic desmopressin and tranexamic acid. In patients with more severe disease, especially those with type 3 VWD, joint bleeds, epistaxis, menorrhagia, and gastrointestinal bleeding are problematic and usually require treatment with von Willebrand factor/factor VIII (VWF/FVIII) concentrate...
July 2016: Seminars in Thrombosis and Hemostasis
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