acquired von willebrand disease treatment

Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare disease with an acute and severe clinical presentation. The anti-von Willebrand factor caplacizumab was licensed for adults with aTTP based on prospective controlled trials. However, until now, there was no Brazilian experience with this new treatment modality. This retrospective, multicenter, single-arm, expanded access program (EAP) with caplacizumab, plasma exchange (PEX), and immunosuppression was conducted between 02/24/21 and 04/14/21, and enrolled 5 Brazilian patients with aTTP...

Acquired hemophilia A (AHA) is a coagulation disorder related to the factor VIII inhibitors, which might cause intractable bleeding of gastrointestinal tracts. However, its scarcity makes it difficult to recognize AHA as a pitfall of endoscopic hemostasis failure. An 81-year-old female with a history of endoscopic treatment for colon polyps visited a local hospital with chief compliments of bloody stool and severe anemia. During several examinations for the bleeding origin, esophagogastroduodenoscopy depicted a 5 mm-sized hemorrhagic angioectasia of the duodenum, followed by treatment with argon plasma coagulation...

Thrombotic thrombocytopenic purpura (TTP) is a rare disease characterized by a severe deficiency (< 10 % activity) of ADAMTS13 enzyme due to an autoantibody (aTTP) or genetic defect leading to congenital TTP (cTTP). The management of aTTP has evolved over the last 30 years, beginning with plasma exchange (PLEX) being the standard of care, leading to gradual aggressive immunosuppression therapies to manage exacerbations and relapses. Although PLEX had reversed the mortality from > 90 % to < 10-20 %, early deaths do occur in severe aTTP, especially when there is a delay in diagnosis and/or PLEX initiation...

BACKGROUND Breakpoint cluster region (BCR)-Abelson murine leukemia (ABL1) and Janus Kinase-2 (JAK2) mutations have been thought to be mutually exclusive in myeloproliferative neoplasms (MNPs), but recent data suggest that they can occur together. CASE REPORT A 68-year-old man was referred to the hematology clinic because of an elevated white blood cell count. His medical history included type II diabetes mellitus, hypertension, and retinal hemorrhage. Fluorescence in situ hybridization analysis of the bone marrow was positive for BCR-ABL1 in 66/100 cells...

Acquired von Willebrand disease (aVWD) is frequently observed in patients with the need for extracorporeal membrane oxygenation (ECMO). aVWD can be treated by plasma-derived concentrates containing factor VIII (FVIII) and/or von Willebrand factor (VWF) and recombinant VWF concentrate as well as adjuvant therapies such as tranexamic acid and desmopressin. However, all of these therapeutic options possibly cause thromboembolism. Therefore, the optimal treatment remains uncertain. This report presents a case of a 16-year-old patient suffering from severe acute respiratory distress syndrome due to coronavirus disease 2019 with the need of ECMO support...

The von Willebrand factor (VWF) collagen binding (VWF:CB) assay was first reported for use in von Willebrand diagnostics in 1986, by Brown and Bosak. Since then, the VWF:CB has continued to be used to help diagnose von Willebrand disease (VWD) ( correctly ) and also to help assign the correct subtype, as well as to assist in the monitoring of VWD therapy, especially desmopressin (DDAVP). However, it is important to recognize that the specific value of any VWF:CB is predicated on the use of an optimized VWF:CB, and that not all VWF:CB assays are so optimized...

Thrombotic thrombocytopenic purpura (TTP) is a fatal disease in which platelet-rich microthrombi cause end-organ ischemia and damage. TTP is caused by markedly reduced ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) activity. Hereditary or congenital TTP (cTTP) is caused by ADAMTS13 gene mutations. In acquired or immune TTP (iTTP), ADAMTS13 activity is reduced by anti-ADAMTS13 autoantibodies. TTP is characterized by thrombocytopenia, hemolytic anemia, fever, renal dysfunction, and neuropsychiatric symptoms...

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...

BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is applied in patients with respiratory or cardiopulmonary failure, but bleeding is a frequent complication contributing to the high mortality rates in this patient collective. A major factor predisposing patients to bleeding events is an acquired von Willebrand syndrome (aVWS). So far, specific treatment options for this phenomenon are lacking. In hereditary von Willebrand disease (VWD), treatment with recombinant or plasma-derived von Willebrand factor (rVWF or pVWF) is common practice...

BACKGROUND: Although acquired von Willebrand syndrome (aVWS) has been described in congenital heart disease before, anatomical features leading to aVWS with characteristic reduction or loss of high molecular weight von Willebrand multimers (HMWM) are not well known. This study assesses the prevalence and effects of aVWS in infants with systemic-to-pulmonary shunts (SPS). METHODS: This retrospective single-center study analyzes diagnostic data of infants with complex congenital heart defects requiring palliation with SPS...

BACKGROUND: Vascular anomalies comprise a diverse group of rare diseases with altered blood flow and are often associated with coagulation disorders. The most common example is a localized intravascular coagulopathy in venous malformations leading to elevated D-dimers. In severe cases, this may progress to a disseminated intravascular coagulopathy with subsequent consumption of fibrinogen and thrombocytes predisposing to serious bleeding. A separate coagulopathy is the Kasabach-Merritt phenomenon in kaposiform hemangioendothelioma characterized by platelet trapping leading to thrombocytopenia and eventually consumptive coagulopathy...

ADAMTS13 (a disintegrin-like metalloprotease domain with thrombospondin type 1 motif, member 13) is a protease of crucial importance in the regulation of the size of von Willebrand factor multimers. Very low ADAMTS13 activity levels result in thrombotic thrombocytopenic purpura, a rare and life-threatening disease. The mechanisms involved can either be acquired (immune-mediated thrombotic thrombocytopenic purpura [iTTP]) or congenital (cTTP, Upshaw-Schulman syndrome) caused by the autosomal recessive inheritance of disease-causing variants (DCVs) located along the ADAMTS13 gene, which is located in chromosome 9q34...

Acquired von Willebrand syndrome (AvWS) is a rare bleeding disorder caused by von Willebrand factor (vWF) dysfunction of various types and severities. Clinical manifestations and differences in the intensity of bleeding are then given by the diversity of vWF disorders. AvWS usually occurs in adult patients with a negative personal or family history of bleeding symptoms and is associated with underlying disease. In recent years, vWF dysfunction has been most commonly attributed to cardiovascular, autoimmune, lymphoproliferative or myeloproliferative comorbidities...

Acquired von Willebrand syndrome (AVWS) is a rare hematologic disorder characterized by quantitative or qualitative defects of von Willebrand factor (vWF), a protein crucial for normal hemostasis. AVWS has been described in association with several pathologic entities with varied mechanisms. Among these, lymphoproliferative disorders are the most common, with monoclonal gammopathy of undetermined significance (MGUS) being the most frequently reported. AVWS in this setting is commonly associated with the development of bleeding that is clinically challenging to manage due to accelerated clearance of vWF, limiting the utility of many conventional treatment modalities such as DDAVP or vWF/FVIII...

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...

Heyde's syndrome encompasses the triad of aortic stenosis (AS), angiodysplasia, and acquired Von Willebrand's disease (aVWD). The disease itself is a rare association that affects a small subset of patients who suffer from aortic stenosis. Nonetheless, it represents a vital area of clinical interest and is woefully underreported in the literature. Patients with Heyde's syndrome develop gastrointestinal bleeding (GI) as a result of angiodysplasia and due to lack of adequate hemostasis, they tend to be positively predisposed toward developing gastrointestinal hemorrhage...

Diagnosis and treatment of paraneoplastic coagulation disorders are a challenge in daily practice. While prophylactic anticoagulation to prevent venous thromboembolism (VTE) is standard of care in all surgical and acutely ill medical cancer patients, particularly careful evaluation of risks and benefits using validated risk assessment models is required during outpatient chemotherapy. Low-molecular-weight heparin and direct oral factor Xa inhibitors are available to treat established cancer-associated VTE, adhering to algorithms for bleeding risk stratification...

Following the widespread use of anti SARS-CoV-2 vaccines, there have been reports of thrombocytopenia developing after the administration of different types of vaccine. We report a case of a 63-year-old male who developed neurological symptoms after receiving the second dose of the bnt162b2 vaccine. Blood tests performed upon admission to the Emergency Department revealed severe thrombocytopenia and microangiopathic hemolytic anemia. ADAMTS13 activity was undetectable and antibody titer was high. Due to the rapid neurological deterioration, steroid therapy with prednisone was started at an initial dose of 1 mg/kg/day...

AVWS (acquired von Willebrand syndrome) has been reported in patients with congenital heart diseases (CHD) associated with shear stress caused by significant blood flow gradients. Its etiology and impact on intraoperative bleeding during pediatric cardiac surgery have not been systematically studied. This single-center, prospective, observational study investigated appropriate diagnostic tools of aVWS compared to multimer analysis as diagnostic gold standard and aimed to clarify the role of aVWS in intraoperative hemorrhage...

Acquired von Willebrand syndrome is a rare bleeding disorder with laboratory findings similar to those of inherited von Willebrand disease. Principal factors distinguishing acquired von Willebrand syndrome from the latter condition include lack of prior bleeding disorders, diagnosis at older age, negative family history and association with underlying conditions. METHODS: Retrospective, monocentric descriptive case series of acquired von Willebrand syndrome diagnosed between 2010 and 2020...