Mild bleeding disorders

BACKGROUND: Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979, with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure and confirmed by sequencing. The syndrome is distinguished by impaired surface exposure of procoagulant PS on platelets after stimulation. To date, platelet function and thrombin generation in this condition have not been extensively characterized. OBJECTIVES: Genetic and functional studies were undertaken in a consanguineous family with a history of excessive bleeding of unknown cause...

Thrombocytopenia, anemia, and myelofibrosis (THAMY) is an exceptionally rare autosomal recessive inherited disorder that arises from pathogenic variations in the megakaryocyte platelet inhibitor G6B (MPIG6B) gene. The MPIG6B gene plays a crucial role in regulating platelet homeostasis. The hallmarks of THAMY are macrothrombocytopenia and focal myelofibrosis, accompanied by varying degrees of anemia, leukocytosis, splenomegaly, and a mild to moderate propensity to bleed. In this case report, we present the clinical details of a 13-year-old male who displayed symptoms of anemia and bleeding as a result of thrombocytopenia...

A bleeding tendency is one of the most common complaints observed by hematologists. It is challenging to differentiate a clinically insignificant bleeding from a bleeding phenotype that requires hemostatic evaluation and medical intervention. A thorough review of personal and familial history, objective assessment of bleeding severity using a bleeding assessment tool, and a focused physical examination are critical to correctly identifying suspected patients with mild to moderate bleeding disorders (MBDs). A basic laboratory work-up should be performed in all patients referred for a bleeding tendency...

Patients with an unexplained mild to moderate bleeding tendency are diagnosed with bleeding disorder of unknown cause (BDUC), a classification reached after ruling out other mild to moderate bleeding disorders (MBD) including von Willebrand disease (VWD), platelet function defects (PFDs), coagulation factor deficiencies (CFDs), and non-hemostatic causes for bleeding. This review outlines our diagnostic approach to BDUC, a diagnosis of exclusion, drawing on current guidelines and insights from the Vienna Bleeding Biobank (VIBB)...

Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of pathogenic variants in the F7 gene in a large group of patients with FVII deficiency and investigate the correlations between the F7 genotype and FVII activity (FVII:C). Moreover, the influence of the common genetic variant rs6046: c.1238G>A; p.(Arg413Gln), designated as the M2 allele, on FVII:C was investigated...

Glanzmann thrombasthenia (GT) is a rare platelet disorder characterized by qualitative/quantitative deficiencies of the platelets' fibrinogen receptor, glycoprotein (GP) IIb/IIIa complex, resulting in impaired platelet aggregation and increased bleeding time. Most cases are hereditary with an autosomal recessive pattern of inheritance, but acquired GT also occurs. We report the surgical management of symptomatic chronic subdural hematoma (CSDH), a rare condition in young individuals, in a 37-year-old man who had GT and a history of mild head trauma approximately one month before admission...

INTRODUCTION: There is sparse data from India on indications, technical success, safety and outcomes of endoscopic retrograde cholangiopancreatography (ERCP) using standard adult duodenoscope in the pediatric population. METHODS: Retrospective analysis of prospectively maintained electronic endoscopy and clinical database was performed to identify pediatric patients (age ≤ 18 years) who underwent ERCP between January 2017 and December 2022...

Hemophilia A and B are one of the most common hereditary bleeding disorders. Patients are predisposed to bleeding spontaneously or after minor trauma in different areas such as the skin, gastrointestinal, or joints. COVID-19 infection has been associated with various clinical manifestations and complications including rarely triggering IgA vasculitis. We report a 23-year-old man who was previously diagnosed with severe hereditary hemophilia A. He presented to our hospital with classic symptoms of IgA vasculitis, complaining of petechiae and purpura in his limbs, fatigue, body aches, poor oral intake, abdominal pain, and watery non-bloody diarrhea...

BACKGROUND: Underlying mechanisms for bleeding and impaired thrombin generation (TG) and plasma clot formation (PCF) in patients with mild to moderate bleeding disorders (MBDs) are still to be elucidated, especially in bleeding disorder of unknown cause (BDUC). The role of the natural anticoagulants activated protein C (APC) and free protein S (PS) has not yet been investigated in this patient population. AIMS: To analyze antigen levels of APC and PS in patients with MBDs and BDUC and investigate associations to clinical bleeding phenotype and severity as well as and hemostatic capacity...

BACKGROUND: Most cases of pediatric epistaxis are spontaneous and self-resolve. However, a subset of children may experience significant bleeding and require procedural or medical intervention. OBJECTIVE: We aim to identify risk factors associated with moderate and severe epistaxis in the emergency department (ED) and explore management outcomes. METHODS: We retrospectively reviewed all patients under 22 years old with epistaxis who presented to our ED between 2013 and 2022...

von Willebrand disease (VWD), the most common inherited bleeding disorder, results when patients either do not make enough von Willebrand factor (VWF) or make defective VWF. The pathophysiology of this disorder is complex but needs to be understood to interpret the diagnostic tests. Most patients have mild to moderate symptoms and can be adequately counseled and managed by a general internist, but some need to consult a hematologist. We review the pathophysiology of VWD, its subtypes, common presentations of each subtype, diagnostic testing, and management of mild as well as severe clinical manifestations of VWD...

Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the FERMT3 gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis...

BACKGROUND: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage. PATIENTS AND METHODS: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants...

Factor XI (FXI) deficiency is a rare bleeding disorder that presents complex challenges in patient assessment and bleeding risk management. Despite generally causing mild to moderate bleeding symptoms, clinical manifestations can vary, and bleeding tendency does not always correlate with FXI plasma levels or genotype. Our manuscript delves into the age-related nuances of FXI deficiency across an individual's lifespan. We emphasize issues faced by specific groups, including neonates and females of reproductive age experiencing abnormal uterine bleeding and postpartum hemorrhage...

A State of the Art lecture titled "Investigating Patients for Bleeding Disorders When Most of the Usual Ones Have Been Ruled Out" was presented at the International Society on Thrombosis and Haemostasis Congress in 2023. Mild to moderate bleeding disorders (MBDs) in patients in whom no diagnosis of an established disorder, such as platelet function defect, von Willebrand disease, or a coagulation factor deficiency, can be identified are classified as bleeding disorders of unknown cause (BDUCs). Prospective data from the Vienna Bleeding Biobank and other studies have revealed a high proportion of BDUCs of up to 70% among patients with MBD who have a similar bleeding phenotype as other MBDs...

Dissecting posterior inferior cerebellar artery (PICA) aneurysms are uncommon lesions. Their anatomy and the location of the dissection are variable, however, they usually occurs at the origin of the PICA. Dissecting PICA aneurysms generally have non-vascular morphology involving an entire segment of the artery and cannot be cut. Nevertheless, the detection of these vascular lesions has increased latterly, so it is necessary to recognize it and take the appropriate management modalities for these injuries. In this report, we describe a case of a 73-year-old male patient, who presented a history of severe headache, associated with neck stiffness, nausea, vomiting, dizziness, hypoactivity, mental confusion, and walking difficulty...

BACKGROUND: Berardinelli-Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first-in-literature liver transplant done on a 7-year-old girl because of liver cirrhosis caused by the Berardinelli-Seip syndrome. CASE REPORT: Physical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs...

BACKGROUND: Adenoidectomy (AT) represents one of the first and most common surgeries in childhood. A joint statement of the German Society for Anesthesiology & Intensive Care Medicine as well as Pediatric & Adolescent Medicine and Otolaryngology, Head and Neck Surgery was published in 2006 to prevent of a possibly life-threatening postoperative bleeding after AT in Child age. Routine blood sampling should be avoided during preoperative preparations and instead a standardized coagulation questionnaire (GB) should be performed to clarify a coagulation disorder (GS)...

UNLABELLED: This study analyzed the periodontal clinical data of individuals with a history of COVID-19 treated in a dental school during the pandemic in 2021 before vaccination. METHODS: This analysis included individuals older than 18 years with no history of systemic disorders other than systemic arterial hypertension. Individuals who had COVID-19 were classified according to the World Health Organization as asymptomatic, with mild, moderate, severe, or critical symptoms...

Hemophilia is a congenital bleeding disorder resulting from a low level or deficiency of clotting factors. It is an x-linked recessive disease and happens almost exclusively in males whereas females are the carrier of the affected gene. The most common types of hemophilia are hemophilia A and Hemophilia B. Hemophilia is classified into mild, moderate and severe. Prophylaxis treatment has more advantages clinically compare to on-demand therapy. It may reduce the bleeding frequency, gives protection from joint damage, may lower the number of total bleeding episodes per year, and may reduce annualised spontaneous and trauma related bleeding events...