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 Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS)...

INTRODUCTION AND IMPORTANCE: Intimomedial mucoid degeneration is a rare vascular disorder first depicted in 1977. It involves mucin deposition in arterial layers. This will cause elastic tissue degeneration and aneurysm formation. This pathology predominantly affects the aorta. However, it could involve other smaller vessels. Surgical treatment could become complicated by a bleeding diathesis. Therefore, a precise surgical technique is necessary to avoid the ensuing complications. CASE PRESENTATION: We present the case of a previously healthy 27-year-old Middle Eastern male who presented to our surgical clinic following the incidental discovery of an infrarenal abdominal aortic aneurysm following a blunt trauma to the left flank incurred during a fall...

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...

The genus Malaxis (family Orchidaceae), comprises nearly 183 species available across the globe. The plants of this genus have long been employed in traditional medical practices because of their numerous biological properties, like the treatment of infertility, hemostasis, burning sensation, bleeding diathesis, fever, diarrhea, dysentery, febrifuge, tuberculosis, etc. Various reports highlight their phytochemical composition and biological activities. However, there is a lack of systematic review on the distribution, phytochemistry, and biological properties of this genus...

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...

Mutations in MYD88 (95-97%) and CXCR4 (30-40%) are common in Waldenstrom macroglobulinemia (WM). TP53 is also altered in 20-30% of WM patients, particularly those previously treated. Mutated MYD88 upregulates and activates HCK that drives BTK pro-survival signaling. Both nonsense and frameshift CXCR4 mutations occur in WM. Nonsense variants such as CXCR4S338X show greater resistance to BTK-inhibitors. Covalent BTK-inhibitors (cBTK-i) produce major responses in 70-80% of WM patients. MYD88 and CXCR4 mutation status can impact time to major response, depth of response and/or progression-free survival (PFS) in WM patients treated with cBTK-i...

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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...

INTRODUCTION: Obesity causes thrombophilia and many coagulation problems related to slowing the capillary flow. We aimed to evaluate rapid weight loss outcomes in the early period after bariatric surgery on the coagulation system. Materials and Method . A prospective study enrolled 28 patients with a BMI > 40 kg/m2 who underwent bariatric surgery. Preoperative and postoperative (first and third months) demographic criteria-such as age, gender, weight, height, and alcohol and tobacco use, and biochemical parameters such as PLT, PT, aPTT, INR, bleeding time, coagulation time, fibrinogen, D-dimer, albumin, calcium, ionized calcium, vitamin D, and PTH-were analyzed...

PURPOSE: Bleeding is a well-known risk of percutaneous breast biopsy, frequently controlled with manual pressure. However, significant bleeding complications may require further evaluation or intervention. Our objectives were to assess the rate, type, and periprocedural management of significant bleeding following percutaneous breast biopsy and to evaluate the success of any interventions. METHODS: We retrospectively reviewed percutaneous breast biopsies at our institution over a 10-year period with documented post-biopsy bleeding complications in radiology reports...

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...

BACKGROUND: Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in their bleeding tendency. The aim of the present study was to investigate whether HHT-patients with epistaxis have impaired platelet function. METHOD: We conducted a case-control study based on a sample size calculation and included 22 HHT-patients (inclusion criteria: epistaxis severity score ≥ 4, no intake of medicine affecting platelet function the last 5 days, HHT-type 1 or 2, age ≥ 18 years) and 20 controls...

BACKGROUND: Patients with atrial fibrillation (AF) and likelihood of bleeding can undergo left atrial appendage occlusion (LAAO) as an alternative method of stroke prophylaxis. Short-term anti-thrombotic drugs are used postprocedure to offset the risk of device-related thrombus, evidence for this practice is limited. OBJECTIVES: To investigate optimal postimplant antithrombotic strategy in high bleeding-risk patients. METHODS: Patients with AF and high-risk for both stroke and bleeding undergoing LAAO were advised their perioperative drug therapy by a multidisciplinary physician panel...

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...