Symptoma

Congenital Alpha-2-Antiplasmin Deficiency

A2AP Deficiency

This present study brings the frequency of heterozygous alpha 2-AP deficient patients with a bleeding tendency to 13 out of 59 heterozygotes reported in the literature. [unboundmedicine.com]

– In this article the clinical importance of α2-antiplasmin is demonstrated by presenting the history of a male aged 19 years suffering from α2-antiplasmin deficiency. [ntvg.nl]

Written for a multidisciplinary audience, this revision presents current data on antithrombotic therapy including warfarins and heparin, delivers practical techniques for diagnosing and treating bleeding and clotting disorders, and includes all topics [books.google.com]

Heterozygotes usually do not present with bleeding disorders Homozygotes may present with moderate to severe bleeding Bleeding is usually posttraumatic rather than spontaneous Thrombotic risk Elevated levels of PAI-1 may be associated with venous or [arupconsult.com]

  • Pathologist

    Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016. [books.google.com]

  • Recurrent Infection

    Checking for immunodeficiency in patients with recurrent infections. Checking responses to immunisations, such as hepatitis B or rubella. Checking for immunity to infections, such as chickenpox in pregnant women. Screening for coeliac disease. [patient.info]

  • Internal Bleeding

    bleeding following a minor trauma and bleeding into the joints.Patients with alpha 2 antiplasmin deficiency often experiences severe medical complications such as: Prolonged bleeding from wounds Increased bleeding after consumption of NSAIDs. [transparencymarketresearch.com]

  • Bleeding Gums

    Tests for bleeding disorders are generally normal, except for the Hess test, which can be abnormal, indicating capillary fragility. 115 Clinically, the disorder manifests itself with easy bruising, bleeding gums, prolonged bleeding after surgical procedures [pediatrics.aappublications.org]

  • Bone Pain

    Disease: Congenital Alpha2-Antiplasmin Deficiency Name Congenital Alpha2-Antiplasmin Deficiency Synonyms - Classification genetic, haematological Phenotypes Abnormal umbilical stump bleeding; Bone pain; Bruising susceptibility; Gingival bleeding; Hematuria [mousephenotype.org]

    This work-up would include: History Bone pain ( myeloma ). Night sweats (lymphoproliferative disorders). Weight loss (cancers). Breathlessness, fatigue (anaemia). Unexplained bleeding (lymphoproliferative disorders). [patient.info]

  • Withdrawn

    […] bleeding; Bone pain; Bruising susceptibility; Gingival bleeding; Hematuria; Hemothorax; Intracranial hemorrhage; Intramuscular hematoma; Joint hemorrhage; Persistent bleeding after trauma; Reduced euglobulin clot lysis time Associated Genes SERPINF2 (Withdrawn [mousephenotype.org]

    After these results, aprotinin was withdrawn from the market in 2008, but in 2011 the Canadian Health authorities [ 55 ] reviewed the BART trial results and authorized aprotinin in coronary bypass graft surgery. [aneskey.com]

    Aprotinine is no longer available, having been withdrawn from the market due to safety concerns[ 144 ]. [wjgnet.com]

  • Dystonia

    Autosomal dominant severe congenital neutropenia Cyclic neutropenia Hereditary chronic pancreatitis Recurrent Neisseria infections due to factor D deficiency CADDS Fibronectin glomerulopathy Severe motor and intellectual disabilities-sensorineural deafness-dystonia [csbg.cnb.csic.es]

    12 Dystonia, Adult-onset Dystonia, Dopa-responsive Dystonia, Torsion Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Cardiac Valvular Form Ehlers-Danlos Syndrome, Hypermobility Type Ehlers-Danlos Syndrome, Progeroid Form Ehlers-Danlos Syndrome, Spondylocheiro [sequencing.com]

  • Vaginal Bleeding

    Uterine Hemorrhage Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding. [bioportfolio.com]

    She remained stable until 32-week gestation when recurrent vaginal bleeding developed. She was hospitalized and at 34-week gestation oligohydramnios and new onset hypertension developed. [hindawi.com]

  • Uterine Hemorrhage

    Uterine Hemorrhage Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding. [bioportfolio.com]

[…] may be necessary to definitively diagnose severe PAI-1 deficiency Plasminogen – activity testing Alpha-2-antiplasmin – activity testing tPA – antigen testing Genotyping (SERPINE1) Consider in patient with recurrent deep vein thrombosis and negative workup [arupconsult.com]

Differential Diagnoses Hemophilia A and B Pediatric Von Willebrand Disease Platelet dysfunction Other clotting factor deficiencies Uncommon coagulopathies Diagnostic Workup Laboratory studies for suspected hemophilia C should include the following: Complete [medcaretips.com]

  • Hyperviscosity

    […] and the approach to anemia -- Anemia of prematurity and indications for erythropoietin therapy -- Hypoplastic anemia -- Hemolytic disease of the fetus and newborn -- Neonatal hemolysis -- Neonatal screening for hemoglobinopathies -- Polycythemia and hyperviscosity [books.google.com]

[…] of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke in Patients with Acute Thrombolytic Therapy Unusual Sites of Arterial Occlusion Pathogenesis and Treatment [books.google.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Treatment with epsilon aminocaproic acid was associated with diminished bleeding and marked increase in the plasmin inhibitor level. [unboundmedicine.com]

Abstract Patients with acute promyelocytic leukemia often develop bleeding diatheses during treatment. [annals.org]

[…] if ALK -) cutaneous T cell lymphoma CD4 convoluted "cerebriform" lymphocytes advanced stage of mycosis fungicides malignant T cell (sezary cells) seed peripheral blood poor prognosis, rare erythroderma (beet red skin) small number of neoplastic cells [quizlet.com]

hemolysis (high bilirubin, LDH, low haptoglobin), schistocytes); thrombocytopenia; renal failure (high BUN, creatine); stool culture - Stx gene detected by PCR Rx: supportive, RBC txfusions for anemia, NO platelet txfusions, dialysis, eculizumab Prognosis [flashcardmachine.com]

Low levels have been found in fulminant hepatic failure and a value of less than 20% is associated with poor prognosis [17]. However, FV may be raised in patients with acute infection. [saudijgastro.com]

This is particularly true in cases of intracranial hemorrhage which represent a serious anticoagulant-related bleeding complication, even though there is no solid evidence from literature of an improvement in prognosis [ 116, 117 ]. [aneskey.com]

The prognosis of patients with reductions in antithrombin as part of other systemic disorders depends on the underlying disorder. The frequency of arterial thrombotic complications is low in patients with antithrombin deficiency. [emedicine.medscape.com]

This practical text covers disorders of thrombosis and hemostasis in a logical and sequential manner: etiology, pathophysiology, clinical and laboratory diagnosis, and management. [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Increased destruction and/or decreased production may be etiological. [slideplayer.com]

Management of Acute Hemorrhage Platelets Plasma and Specialized Coagulation Concentrate New Approaches for the Therapy of Bleeding Disorders Overview of Venous Thromboembolism Thrombophilia Genetics Epidemiology and Risk Factors for Venous Clinical Manifestations [books.google.com]

[…] platelet disorder Synonym(s): (no synonyms) Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for SERPINF2 Genetic Association Database (GAD) SERPINF2 Human Genome Epidemiology (HuGE) Navigator SERPINF2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SERPINF2 No data available for Genatlas for SERPINF2 Gene [genecards.org]

Epidemiology of obstructive sleep apnea. A population health perspective. Am J Respir Crit Care Med. 2002; 165: 1217–1239. pmid:11991871 View Article PubMed/NCBI Google Scholar 7. [journals.plos.org]

This monograph owes its conception to a programme of work directed towards understanding the basic pathophysiology of atherosclerosis. [books.google.com]

SERPINE1) Consider in patient with recurrent deep vein thrombosis and negative workup for common defects Differential Diagnosis Factor deficiency Factor VIII or IX deficiency most common von Willebrand disease Functional platelet disorder Background Pathophysiology [arupconsult.com]

Semin Thromb Hemost 35(4):400–406 PubMed CrossRef Google Scholar Meeks SL, Abshire TC (2008) Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. [link.springer.com]

[…] of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke in Patients with Acute Thrombolytic Therapy Unusual Sites of [books.google.com]

Inherited deficiency of α 2 -antiplasmin results in tendency to severe bleeding, including extravasation into joints or their synovial cavities. an·ti·plas·min ( an'tē-plaz'min ), A substance that inhibits or prevents the effects of plasmin; found in [medical-dictionary.thefreedictionary.com]

In this way α 2 -PI prevents plasminogen binding to fibrin.. The gene for α 2 -PI [SERPINF2] maps to the short arm of chromosome 17 [17pter-p12] and contains 10 exons and 9 introns. [practical-haemostasis.com]