diagnosis of bleeding diathesis

Spontaneous/atraumatic splenic rupture is rare, and often associated with underlying infectious disease, or haematological malignancy. Plasma cell leukaemia (PCL) is a rare and aggressive subtype of multiple myeloma, with a higher prevalence of hepatosplenomegaly with a bleeding diathesis from secondary to thrombocytopaenia. We report the case of an 82-year-old male presenting to the emergency department with altered mentation and complaints of left abdominal pain. He presented with haemorrhagic shock. Imaging revealed a spontaneous splenic rupture...

Sarcoidosis, a multi-organ system disease, often presents insidiously. Thrombocytopenia in sarcoidosis is frequent because of hypersplenism, granulomas infiltrating the bone marrow, or immune thrombocytopenia (ITP). The diagnosis of ITP relies on exclusionary criteria, given the absence of a definitive laboratory diagnostic feature. In the era prior to modern ITP management, sarcoidosis-associated ITP was known to manifest severely, often showing resistance to treatment and an increased risk of mortality. In this case, we present a young male who was admitted to a district hospital's emergency room, displaying symptoms of hematuria, gingival bleeding, and a petechial rash...

BACKGROUND: Accidental hypothermia poses a significant threat to the elderly, and its prevalence might increase due to aging and increasing isolation of individuals in Japan. Here, a series of four consecutive cases of accidental hypothermia in elderly patients with intracranial hemorrhage who underwent surgical treatment at our institution is presented. CASE DESCRIPTION: All patients were admitted to the emergency department with a diagnosis of intracranial hemorrhage...

OBJECTIVES: Bleeding diathesis is a complication in dogs infected with Angiostrongylus vasorum. This retrospective study investigated clinical and laboratory haemostatic differences in A. vasorum-positive dogs with and without signs of bleeding and impact of bleeding on survival. MATERIALS AND METHODS: Demographics, type of clinical bleeding, haematocrit and a range of haemostatic tests, including thromboelastography and derived velocity curves were retrospectively registered from A...

INTRODUCTION: Small bowel bleeding can be overt or occult. Despite advances in imaging and endoscopy, the diagnosis and treatment of small bowel bleeding remain challenging due to its length and location. Diagnostic procedures such as push enteroscopy, capsule endoscopy and intraoperative enteroscopy are recommended to identify the source of bleeding. CASE PRESENTATION: A 33-year-old female with no prior history of bleeding diathesis presented with massive lower GI bleeding...

Acquired von Willebrand syndrome (AvWS) is a rare bleeding disorder caused by dysfunction of the von Willebrand factor (vWF), leading to bleeding manifestations. It usually occurs due to an underlying disorder in patients with no family or personal history of bleeding diathesis. The exact mechanism causing this syndrome is not fully understood, but it involves a complex interplay of factors. Specifically, vWF deficiency or reduced activity can occur due to antibodies, adsorption of vWF onto tumor cells, shear stress, or increased proteolysis...

Acquired coagulopathies resulting from factor X deficiency are rare and typically associated with amyloidosis or plasma cell dyscrasia. Factor X plays a pivotal role in the coagulation cascade, converting prothrombin into thrombin and facilitating the formation of fibrinogen and thrombus. While its occurrence following common infections is extremely rare, isolated cases have been documented. We present a rare case of bleeding diathesis in a patient with community-acquired pneumonia, where prolonged activated partial thromboplastin time (aPTT) and prothrombin time (PT) led to the diagnosis of an infectious-triggered acquired circulating inhibitor targeting factor X...

Factor VIII deficiency is mostly seen in hemophilia A, an X-linked recessive disorder. Patients would have a past medical history of bleeding diathesis or a family history of bleeding disorder. Acquired deficiencies of factor VIII are rare; some cases have been reported in solid malignancies. We present this case of acquired factor VIII deficiency in chronic myeloid leukemia (CML). A 72-year-old man was incidentally found to have leukocytosis at 31,000 and a platelet count of 3.2 million on a routine complete blood count (CBC)...

PURPOSE: We report a case of Hermansky-Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene ( DTNBP1 ) and highlight the genetic challenges associated with this rare disorder. METHODS: Case report. Literature review was performed by searching PubMed on May 2023, without language or date restriction, using the following terms: Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome type 7, and dystrobrevin-binding protein 1 gene...

BACKGROUND: This study aimed to evaluate the bleeding phenotype and to conduct a comprehensive hemostatic evaluation in individuals with Noonan syndrome (NS), a dominantly inherited disorder caused by pathogenic variants in genes associated with the Ras/MAPK signaling pathway. METHODS: Children with a genetically confirmed diagnosis of NS underwent clinical evaluation, routine laboratory tests, platelet function testing, and thrombin generation (TG) assessment. RESULTS: The study included 24 children...

KEY CLINICAL MESSAGE: Sickle cell disease (SCD) rarely presents with acute soft head syndrome (ASHS) often posing a diagnostic dilemma. Recovery is typically spontaneous, however, in the context of lack of awareness and limited brain imaging it could potentially lead to poor outcome. ABSTRACT: ASHS is a rare complication of SCD, invariably occurring near puberty with hitherto elusive pathogenic mechanisms. ASHS often resolves spontaneously on conservative management, however, lack of awareness in the context of limited access to brain imaging could pose diagnostic challenges resulting in inappropriate management and untoward outcome...

BACKGROUND: Impairment of platelet responses to adenosine diphosphate (ADP) is typified by mild to severe bleeding diathesis, easy bruising, excessive mucosal and post-operative bleeding. Patients lack full platelet activation and aggregation in response to ADP. Following research of the literature in Scopus, PubMed/MEDLINE, ScienceDirect, and the Cochrane Library, we report only 18 patients described to date with impaired platelet response to ADP, none of whom in the high bleeding-risk surgical setting or exploring potential therapeutic options...

BACKGROUND: Multiple myeloma is one of the most common hematologic malignancies. Acquired factor X deficiencies are often observed in primary (AL) amyloidosis and rarely in multiple myeloma. OBJECTIVE: We report a case of an acquired factor X deficiency in a patient with a newly diagnosed IgA lambda multiple myeloma, without any evidence of concomitant amyloidosis. METHODS: We present the patient's medical history, clinical and physical examinations, laboratory analysis, and outcome...

INTRODUCTION: Intracranial haemorrhage may complicate infective endocarditis, caused by ruptured mycotic aneurysms or haemorrhagic transformation of brain septic emboli. The risk of intracranial bleeding may increase with the use of non-steroidal anti-inflammatory agent (NSAIDs). CASE DESCRIPTION: We report on a 53-year-old male patient with a past history of intravenous drug abuse, who was treated with diclofenac (75 mg IM) for a few hours of preceding fever and arthralgia...

INTRODUCTION: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. METHODS: To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study...

Early death (ED) is still the major obstacle to cure in acute promyelocytic leukemia (APL). Most studies focus on 30-day ED; however, little is known on predictors of death before starting APL treatment (very early death - VED) and on predictors of 7-day ED, the period with most deaths due to thrombohemorrhagic diathesis. We hypothesized whether the severity of the coagulopathy of APL could predict VED and 7-day ED. We also aimed to evaluate other characteristics associated with these outcomes. We undertook a retrospective, single-center observational study including newly diagnosed APL patients admitted to our institution between January 2000 and November 2022...

INTRODUCTION: In acquired hemophilia A (AHA), the body produces auto-antibodies against Factor VIII. Although AHA is rare, with an incidence of 1.5 patients/1 million population/year, there is a strong association with human immunodeficiency virus (HIV) infection. The accurate interpretation of screening coagulation tests is critical to identify patients with AHA, as the mortality rate secondary to bleeding is high. METHODS: This was a retrospective case series which included all newly diagnosed AHA patients that were referred to Hemophilia care unit at King Edward VIII Hospital, Durban, South Africa from January 2011 to December 2021...

Linking the genetic background of patients to a bleeding diathesis and altered platelet function is still challenging. We aimed to assess how the multiparameter microspot-based measurement of thrombus formation under flow can identify patients with a platelet bleeding disorder. For this purpose, we studied 16 patients, presenting with bleeding and/or albinism and a suspected platelet dysfunction, as well as 15 relatives. Genotyping of patients revealed a novel biallelic pathogenic variant in RASGRP2 (splice site c...

Silver hair syndromes (SHS) consist of rare autosomal recessive disorders, Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a disorder of vesicle trafficking; characterized by silvery hair, diffuse pigment dilution, immunodeficiency, bleeding diathesis, neurological manifestations, and an accelerated phase due to lymphohistiocytic infiltration. GS is characterized by hypopigmentation of skin and hair, with large clumps of pigment in the hair shaft. There are three types of GS...

Hemostatic disorders are common during extracorporeal membrane oxygenation (ECMO)-therapy. This includes both bleeding and thrombotic complications. Particularly bleeding is often associated with fatal outcome. The early identification of hemorrhagic diathesis and the diagnosis of the underlying pathology are essential. A distinction into device-, disease-, and drug-related disorders appears reasonable. However, both correct diagnosis and therapy can be challenging and sometimes counterintuitive. Since bleeding seems to be more frequent and dangerous compared to thrombosis, the understanding of coagulation disorders and minimizing anticoagulation has been focused in recent years...