diagnosis of bleeding diathesis

INTRODUCTION: Congenital Factor (F) XIII deficiency is an autosomal recessive disorder caused by genetic variations in either F13A or F13B genes leading to a bleeding diathesis with variable severity. Patients with severe FXIII deficiency usually present with umbilical cord bleeding during the neonatal period. Ecchymosis, epistaxis, and post-trauma bleeding are the most frequently reported features in FXIII deficiency. Poor wound healing and recurrent delayed bleeding episodes are typical features of factor XIII deficiency as well...

Vaccination against SARS-CoV2 has been the largest vaccination campaign over the past two decades. The aim of this study is to qualitatively assess the reported cases of acquired hemophilia A (AHA) that developed after COVID-19 vaccination to further elaborate on incidence, presentation, treatment, and outcomes.We queried Medline (PubMed), Google Scholar, and Embase databases to find reported cases of AHA after COVID-19 vaccines. We found 14 studies (19 cases) for this descriptive analysis. Most patients were elderly (mean age 73 years) and males ( n = 12) with multiple comorbidities...

BACKGROUND: Leukocyte and platelet integrin function defects are present in leukocyte adhesion deficiency type III (LAD-III) due to mutations in FERMT3. Additionally, osteoclast/osteoblast dysfunction develops in LAD-III. AIM: To discuss the distinguishing clinical, radiological, and laboratory features of LAD-III. METHODS: This study included the clinical, radiological, and laboratory characteristics of twelve LAD-III patients. RESULTS: The male/female ratio was 8/4...

BACKGROUND: The present study aimed to compare clinical features, management, and outcomes between children and adolescents admitted as cases of multi-system inflammatory syndrome in children (MIS-C) in Indira Gandhi Medical College (IGMC), Shimla. MATERIAL AND METHODS: We conducted a cross-sectional study for MIS-C from January to July 2021, in the pediatric ward of IGMC in Himachal Pradesh. All children admitted with a diagnosis of MIS-C were included in the study...

BACKGROUND: Patients on long-term dialysis are prone to hemorrhagic complications, particularly uremic bleeding, but gallbladder hemorrhage is rare, even in patients on dialysis. There have been occasional reports of a Dieulafoy lesion being a cause of gastrointestinal hemorrhage, but its occurrence within the gallbladder is quite rare. This report describes a case of gallbladder hemorrhage from a Dieulafoy lesion in a patient on hemodialysis that was diagnosed early and successfully treated by laparoscopic cholecystectomy...

ANAMNESIS AND CLINICAL EXAMINATION: A 40-year-old male patient presented to our emergency department with a new onset of hemorrhagic diathesis. Clinically, there were marked bleeding stigmata with extensive ecchymosis in the thigh area and oral mucosal hemorrhage with otherwise general well-being. DIAGNOSTICS: The coagulation diagnostics performed were consistent with the picture of disseminated intravascular consumption coagulopathy. Microscopic blood count also revealed 74% morphologically atypical promyelocytes...

PURPOSE: Noonan syndrome (NS) is a rare neurodevelopmental syndrome characterized by dysmorphic features, congenital heart defects, neurodevelopmental delay, and bleeding diathesis. Though rare, several neurosurgical manifestations have been associated with NS, such as Chiari malformation (CM-I), syringomyelia, brain tumors, moyamoya, and craniosynostosis. We describe our experience in treating children with NS and various neurosurgical conditions, and review the current literature on neurosurgical aspects of NS...

BACKGROUND: Delayed diagnosis of hypothyroidism may result in atypical presentations. Here, we report a case with decreased serum level and activity of von Willebrand factor due to untreated profound hypothyroidism. OBSERVATION: A 9-year-old girl, presented with prolonged gingival bleeding after dental extraction. Clinical findings of the case were consistent with hypothyroidism, and the laboratory workup results revealed decreased serum level and activity of von Willebrand factor associated with profound hypothyroidism...

PURPOSE: To discuss the pathophysiology, etiology, and current management strategies of uveitis-glaucoma-hyphema (UGH) syndrome. METHODS: Literature review. RESULTS: The classic UGH syndrome associated with anterior chamber intraocular lenses (ACIOL) have decreased in incidence with the modernization of IOL design and surgical techniques. The current UGH syndrome is increasing in prevalence largely related to a parallel increase in late onset dislocations of intraocular lenses (IOLs) and the developing techniques to remedy that condition...

Our report shows a case of primary light-chain amyloidosis in a young patient that reflects the potential severity of bleeding diathesis associated with this plasma cell dyscrasia and the difficulty of diagnosis when only hemorrhagic manifestations are present at the onset of disease. The patient presented with recurrent and severe muscular bleeding secondary to associated acquired von Willebrand disease and fibrinolysis dysfunction. Treatment with bortezomib-cyclophosphamide and sequential hematopoietic stem cell transplantation solved coagulation alterations...

CONTEXT: To evaluate the early death (ED; death within 30 days) rate and its causes in newly diagnosed acute promyelocytic leukemia (APL) patients. BACKGROUND: APL [t(15;17)] is a highly curable disease. EDs can be as high as 30% in a general hospital. METHODS: We retrospectively analyzed new APL patients ≥18 years old treated at MHH between January 2009 and December 2021 using electronic medical records. Data included demographics, WBC, hemoglobin, platelet count on admission, coagulation parameters, presence/absence of disseminated intravascular coagulation, bone marrow or peripheral blood molecular analysis, immunohistochemistry, cytogenetics, Sanz score and risk stratification, timing of initiation of all trans retinoid acid (ATRA), complete response (CR) rate, major adverse events during induction, and ED rate...

Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy...

Background: Neuroendocrine neoplasms (NENs) are uncommon, with duodenal NENs (dNENs) being particularly rare in clinical practice. Congenital factor XIII deficiency (FXIIID) is also an extremely rare hematological disease in which poor wound healing may occur due to coagulopathy. The concurrent occurrence of these two rare diseases has not been reported before, which increases the difficulty of diagnosis and treatment. This is the first report of dNEN concomitant with Congenital FXIIID, which can present as a reference for clinicians who may encounter similar situations in the future...

Haemophilia is a common hereditary cause of bleeding diathesis and the musculoskeletal system is frequently affected. Repeated episodes of haemarthrosis initiate a cascade towards haemophilic arthropathy, a disabling and deforming joint disease with both degenerative and inflammatory features, which include articular cartilage loss, bone erosions, and synovitis. Haemophilic pseudotumour and intra-muscular haematoma make up the remainder of the musculoskeletal manifestations of this systemic condition. Radiological assessment is vital in the assessment and follow-up of these haemophilic complications and MRI is the reference standard...

Pediatric antiphospholipid syndrome (APS) is characterized by autoantibodies directed against protein complexes on cellular membranes and leads to a prothrombotic, proinflammatory state. A child with APS may present with venous, arterial, or small vessel thrombosis. Other manifestations of APS include nonthrombotic manifestations, such as hematologic and neurologic symptoms. APS may be a primary condition or related to other autoimmune diseases. If APS-related thrombosis is unrecognized, the child may suffer recurrent thrombotic events after the withdrawal of anticoagulation...

BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients are at a significant risk of developing a variety of skin complications and little is known about the prevalence of dermatologic diagnoses in this population. OBJECTIVES: To report dermatologic manifestations in patients with Hermansky-Pudlak syndrome (HPS)...

In acquired hemophilia A (AHA), autoantibodies to coagulation factor VIII (FVIII) neutralize FVIII activity leading to a potentially severe bleeding diathesis that carries a high rate of morbidity and mortality. This disorder is rare and occurs mainly in adults over 60 years of age or in the postpartum period. The diagnosis should be suspected in patients with new-onset bleeding without a personal or family history of bleeding and can be confirmed via specific assays for FVIII inhibitors. Treatment involves both hemostatic therapies to decrease bleeding and immune modulation strategies to re-establish immune tolerance to FVIII...

Haemorrhagic cholecystitis (HC) is a rare cause of cholecystitis that can be fatal if management is delayed. HC could present in the setting of trauma, malignancy and bleeding diathesis, such as renal failure, cirrhosis and anticoagulation. Its symptoms are easily confused with acute calculous or acalculous cholecystitis and might include haemobilia or hematemesis as blood drains from the gallbladder into the gastrointestinal tract. Imaging of HC can be misleading unless the possibility of this diagnosis is considered...

Összefoglaló. A szerzett haemophilia A ritka autoimmun betegség, melyben gátlótest képződik a VIII. véralvadási faktor ellen. Az inhibitor véralvadásra gyakorolt hatása súlyos, életet veszélyeztető vérzéses állapotot idéz elő. A beteg élete a gyors diagnózison múlik: a jellemző klinikai kép mellett a megnyúlt, normálplazmával nem korrigálható aktivált parciális tromboplasztinidő megléte esetén a kórkép alapos gyanúja merül fel. Egy súlyos vérszegénység miatt kórházunkba beutalt nőbeteg esetében a szerzett haemophilia A a felvételt követő napon már diagnosztizálásra került...

BACKGROUND: Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of bleeding disorders in patients with RASopathies and evaluate any significant association with laboratory findings. PATIENTS AND METHODS: Forty-nine individuals (PTPN11, n = 27; SOS1, n = 7; RIT1, n = 3; SPRED1, n = 1; LZTR1, N = 3; RAF1, n = 2; BRAF, n = 4; MEK1, n = 1; MEK2, n = 1), and 49 age- and sex-matched controls were enrolled...