Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019087 (hemorrhagic diathesis)
 678 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a quite rare case of acquired type 3-like von Willebrand syndrome (vWS) that preceded full-blown systemic lupus erythematosus (SLE). A 16-year-old woman with no previous disease history and no family history of hemorrhagic diathesis was referred to our hospital because of recurrent epistaxis and gingival bleeding. She was diagnosed as having atypical type 3 von Willebrand disease because of prolonged bleeding time with normal platelet count and prolonged activated partial thromboplastin time (aPTT), and an almost complete absence of von Willebrand factor (vWF) antigen, ristocetin cofactor activity (vWF:RCo) and ristocetin-induced platelet agglutination (RIPA). Furthermore, electrophoretic analysis of plasma vWF revealed a trace amount of vWF and an absence of the multimeric form of vWF. Infusions of either vasopressin or factor VIII/vWF concentrates improved bleeding symptoms and corrected the aPTT and RIPA. However, she complained of low-grade fever, general fatigue and polyarthralgia 5 months later, and leukocytepenia and hypo-complementemia developed. Anti-double-stranded DNA antibodies and lupus erythematosus cells became positive. These findings were compatible with SLE. Mixing the patient's platelet-poor plasma (PPP) with normal platelet-rich plasma (PRP) (PPP/PRP = 2/1) resulted in a complete inhibition of RIPA, suggesting the presence of vWF inhibitor in her plasma. Treatment with prednisolone (40 mg/day) started and the bleeding tendency gradually improved. One month later, all of the laboratory data including aPTT, bleeding time, RIPA and vWF:RCo became normal. These findings indicate that she has an acquired type 3-like vWS associated with SLE.
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PMID:Acquired type 3-like von Willebrand syndrome preceded full-blown systemic lupus erythematosus. 1203 3

A 30-year-old woman with von Willebrand's disease was admitted in labor. As epidural analgesia was ruled out due to risk of spinal hematoma, a pump for patient-controlled analgesia (PCA) was provided with boluses of remifentanil and set for intravenous infusion of 24 micrograms with a lockout time of 5 minutes. The patient reported analgesia to be satisfactory. Later, because of abnormal fetal positioning, an emergency cesarean was performed with the patient under general anesthesia with remifentanil, with propofol and succinylcholine for induction. A healthy girl was born free of respiratory depression. Von Willebrand's disease is a hemorrhagic disorder of autosomal dominant inheritance due to a quantitative or functional factor VIII deficit. Various subtypes and degrees of severity of abnormal bleeding have been described. It is the most common genetic hemostatic disorder affecting obstetric procedures, and although epidural analgesia has been used with strict hematologic monitoring, that technique carries a risk of hematoma. PCA is useful in patients for whom regional techniques are contraindicated. With adequate fetal and maternal monitoring, remifentanil in PCA is safe and more effective than other opiates for labor pain.
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PMID:[Obstetric analgesia and anesthesia with remifentanyl in a patient with von Willebrand disease]. 1283 98

The PFA-100 instrument (Platelet Function Analyzer, Dade Behring) has been reported to be superior to the bleeding time (BT) as a screening test of primary hemostasis. However evaluation of this device has been principally limited to selected populations. The study's aim was to determine testing performance in clinical practice, by comparing the PFA-100 to the BT for the identification of von Willebrand disease (VWD) and intrinsic platelet hypofunction. From 1998-2000, PFA-100 closure time (CT) for epinephrinecollagen (EPI) and ADP-collagen (ADP) cartridges and modified Ivy BTs were performed on outpatients referred for testing for suspected or known hemorrhagic diathesis (n = 346). Evaluation included assays of von Willebrand factor and platelet aggregometry in addition to platelet flow cytometry and electron microscopy when indicated. The normal distribution of PFA-100 CTs was determined using blood samples from 61 normal donors studied on 155 occasions. Results show that thirty-four patients met the diagnostic criteria for VWD and 31 patients were diagnosed with congenital or acquired intrinsic platelet hypofunction. The sensitivity of the PFA-100 for identification of VWD was significantly better (p < 0.01) than the BT with similar specificity. In contrast, the PFA-100 was comparable, but not superior to the BT for detecting platelet hypofunction. We conclude that the PFA-100 performance compares favorably to the BT for the identification of intrinsic platelet hypofunction in clinical practice with superior sensitivity for detecting VWD. Therefore, the PFA-100 could replace the BT for purposes of screening for VWD and intrinsic platelet hypofunction. When clinical suspicion is strong, testing should be supplemented with assays of von Willebrand factor and platelet aggregometry.
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PMID:Comparison of PFA-100 testing and bleeding time for detecting platelet hypofunction and von Willebrand disease in clinical practice. 1295 18

There is increasing evidence that von Willebrand factor (VWF), an adhesive multimeric protein that has an important function in primary hemostasis and as a carrier of factor VIII, has a pivotal role in thrombogenesis. In fact, while the presence in plasma of unusually large VWF multimers due to a congenital or acquired deficiency of a VWF-cleaving metalloprotease has been implicated in the pathogenesis of thrombotic thrombocytopenic purpura (TTP), high plasma levels of VWF have been associated with a slightly increased risk of arterial thrombosis. With regard to the association between VWF and venous thrombosis, clear conclusions cannot yet be drawn from the conflicting published data. Patients with von Willebrand disease, an inherited hemorrhagic disorder, may also paradoxically experience thrombotic events as a result of interactions among multiple prothrombotic risk factors. After a description of the structure and physiology of VWF, all these aspects are discussed in the present review.
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PMID:Von Willebrand factor and thrombosis. 1656 19

Von Willebrand disease (vWD), a hemorrhagic disorder mimicking a defect in platelet function, is the most commonly inherited coagulopathy, resulting in a deficiency that may prolong bleeding time and increase risk for major bleeding complications during surgery. Von Willebrand factor (vWF) serves a dual role in hemostasis: mediating the initial platelet adhesion to damaged endothelium at the site of vessel injury and stabilizing coagulation factor VIII, an important cofactor in the generation of a fibrin clot. Although quantitative or qualitative defects in vWF protein can manifest as a mild to severe bleeding disorder, many cases of vWD remain subclinical, barring major invasive stimuli, and undetected by either patient or clinician. Nevertheless, the frequency of this coagulation disorder would almost ensure that every plastic surgeon will encounter affected patients, making a thorough understanding of vWD and its management absolutely necessary. Surprisingly, there is little information concerning vWD in the plastic surgery literature. Our goal is to familiarize the plastic surgeon with vWD, including physiology, diagnostic criteria, classification, and molecular basis for multiple vWD variants, and diagnosis and management.
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PMID:Von Willebrand disease: screening, diagnosis, and management. 1908 26

A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child with light blond colored skin accompanied by black-haired parents. Physical and ophthalmic examination revealed nystagmus, AHP and oculocutaneous albinism. The molecular genetic analysis showed a mutation in the HPS-1 gene which confirmed the suspected diagnosis of Hermansky-Pudlak syndrome (HPS). Of clinical significance, patients with HPS commonly have hemorrhagic diathesis, granulomatous colitis or restrictive lung fibrosis. A detailed full medical history, ophthalmic examination as well as genetic analyses are essential in establishing the diagnosis of HPS. Treatment includes correcting refraction anomalies with spectacles or contact lenses, prescription of tinted glasses or surgical correction of the AHP. An internal medical consultation is also necessary for the management of other associated symptoms, such as hemorrhagic diathesis.
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PMID:[Hermansky-Pudlak syndrome]. 2280 37

Von Willebrand disease (VWD) is an inherited hemorrhagic disorder promoted by either quantitative or qualitative defects of the von Willebrand factor (VWF). The disease represents the most common human coagulopathy afflicting 1.3% of the population. Qualitative defects are subdivided into four subtypes and classified according to the molecular dysfunction of the VWF. The differential diagnosis of the VWD is a difficult task, relying on a panel of tests aimed to assess the plasma levels and function of the VWF. Here, we propose biochemical approaches for the identification of structural variants of the VWF. A bioinformatic analysis was conducted to design seven peptides among which three were representatives of specific amino acid sequences belonging to normal VWF and four encompassed sequences found in the most common VWD subtype 2B. These peptides were used to immunize mice, after which, peptide-specific immunoglobulins were purified. This resulted in four Ig preparations capable of detecting alterations in the subtype 2B VWD plus additional three antibody fractions targeting the normal VWF. The panel of antibodies could serve many applications among them (1) assessment of VWF: antigen interaction, (2) VWF multimer analysis, and (3) production of monoclonal antibodies against VWF for therapeutic purposes as in thrombotic thrombocytopenic purpura.
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PMID:Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. 2397 Sep 4

Acquired hemophilia A is a truly exceptional hemorrhagic diathesis, that consists of the emergence of polyclonal autoantibodies (inhibitor) IgG-type (subclasses 1 and 4, in most cases) against the coagulant function of the circulating factor VIII, which acts in the domains C2, A2 and A3 of the molecule, thus interfering their interaction with the factor IXa, the phospholipids and the Von Willebrand factor. Its morbidity and mortality are high, but nevertheless its low incidence (1-1.5 cases per million population per year) is the most frequent autoimmune disorder. This paper reports the clinical case of two patients; the first one, 36 years old, who the tenth day of postpartum required re-entry due to a diagnosis of hematoma of the abdominal wall that was surgically drained twice. The patient of case 2 was 39 years old and at six days of postpartum went to the emergency room due to bleeding, she was underwent to curettage and therapeutic transfusion of 3 UCH. Because of the persistence of bleeding, which was not possible to control with medical treatment and conservative measures, therapeutic hysterectomy was performed, with blood transfusion later. Due to the hemorrhagic complications of this condition and the serious clinical consequences derived from them, it is important to establish an early diagnosis; it is therefore critical to know the existence of this very rare disease to be able to avoid its consequences.
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PMID:[Diagnosis and treatment of hemophilia A acquired during postpartum ]. 2551 60

Mild inherited bleeding disorders are relatively common in the general population. Despite recent advances in diagnostic approaches, mild inherited bleeding disorders still pose a significant diagnostic challenge. Hemorrhagic diathesis can be caused by disorders in primary hemostasis (von Willebrand disease, inherited platelet function disorders), secondary hemostasis (hemophilia A and B, other (rare) coagulant factor deficiencies) and fibrinolysis, and in connective tissue or vascular formation. This review summarizes the currently available diagnostic methods for mild bleeding disorders and their pitfalls, from structured patient history to highly specialized laboratory diagnosis. A comprehensive framework for a diagnostic approach to mild inherited bleeding disorders is proposed.
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PMID:A diagnostic approach to mild bleeding disorders. 2720 5

Acquired von Willebrand syndrome is a rare hemorrhagic diathesis, with clinical symptoms similar to those associated with the inherited form von Willebrand disease. This syndrome is characterized by a lack of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Most commonly, acquired von Willebrand syndrome develops in the course of other conditions, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders; additionally, it can be associated with some non-hematological malignancies and use of certain prescription drugs. Pathogenesis of von Willebrand syndrome is complex and not fully understood. Deficiency or impaired activity of von Willebrand factor can result from the presence of specific antibodies against this factor, its adsorption onto the surfaces of neoplastic cells, mechanic injury or proteolysis. Diagnosis is based on the measurements of plasma concentration and the activity of von Willebrand factor and multimer analysis. Management of acquired von Willebrand syndrome includes the therapy of the underlying disease and the control or prevention of bleeding. Hemostatic drugs that are most commonly prescribed in this syndrome include desmopressin, von Willebrand factor concentrates, recombinant activated factor VII, intravenous immunoglobulin and adjunctive antifibrinolytic therapy. Additionally, plasmapheresis is required in some cases.
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PMID:Acquired von Willebrand Syndrome. 2802 90


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