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]

The inhibitors differ in their major sources in blood, with alpha(2)-AP present at high concentrations in plasma, PAI-1 primarily in platelets, and PAI-2 a product of stimulated monocytes, giving them distinct and complementary roles in stabilizing fibrin [abdn.pure.elsevier.com]

This manuscript presents many important clinical conditions that are uncommon and may go undetected by medical personnel. [pubmed.ncbi.nlm.nih.gov]

With her first pregnancy, she presented at 10-week gestation with recurrent nephrolithiasis and hematuria. [hindawi.com]

• Amyloidosis

  TY - JOUR T1 - Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis. [unboundmedicine.com]

  […] deficiency CADDS Fibronectin glomerulopathy Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Familial afibrinogenemia Familial dysfibrinogenemia Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial renal amyloidosis [csbg.cnb.csic.es]

  Signs of heart failure (amyloidosis). Macroglossia (amyloidosis). Signs of carpal tunnel syndrome (amyloidosis). Investigations FBC (anaemia, lymphocytosis, lymphopenia, thrombocytopenia). ESR (raised in myeloma, sepsis, cancers). [patient.info]

  Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency. ( 3465267 ) Schwartz B.S....Mosher D.F. 1986 8 Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis [malacards.org]

• Short Stature

  Noonan syndrome is characterized by congenital cardiac abnormalities, short stature, and mental retardation. Factor XI deficiency is a common finding in Noonan syndrome. [medcaretips.com]

  Stature) Iodide Transport Defect, Thyroid Hormonogenesis, Genetic Defect in IPEX syndrome Iris Flocculi Isolated Lissencephaly Sequence Isolated Partial Atrioventricular Septal Defect Isovaleric Acidemia ITPase Deficiency Jervell and Lange-Nielsen Syndrome [sequencing.com]

  In children with bruises only, in the absence of other clinical indicators of OI, such as short stature, blue sclera, wormian or demineralized bones, or family history, it is generally not necessary to rule out OI via collagen or DNA testing. [pediatrics.aappublications.org]

• Heart Disease

  Mallick NP, Short CD (1981) The nephrotic syndrome and ischaemic heart disease. Nephron 27:54–57 PubMed CrossRef Google Scholar 10. Cameron JS, Ogg CS, Ellis FG, Salmon MA (1971) Femoral arterial thrombosis in nephrotic syndrome. [link.springer.com]

  disease. [2010.04.30] Coagulation factors IX through XIII and the risk of future venous thrombosis: the Longitudinal Investigation of Thromboembolism Etiology. [2009.10.01] Effects of second and third generation oral contraceptives and their respective [druglib.com]

  Ischaemic heart disease was analogously reported. Swedish, British and Polish reports indicated that elevated levels of PAI-1 should be considered an independent risk factor of coronary artery disease [36]. [journals.plos.org]

  Defects Congenital Heart Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities Congenital [sequencing.com]

• Vascular Disease

  Postdoctoral dissertation, Institute of Tuberculosis and Lung Diseases of Warsaw. 2003. 2. Shamsuzzaman AS, Gersh BJ, Somers VK. Obstructive sleep apnea. Implications for cardiac and vascular disease. [journals.plos.org]

  […] occlusion of the splenic a. or vital branches could be caused by emboli or vascular disease storage disease in which certain products build up in macrophages and are unable to be broken down --> splenomegaly marks immature T cells in the thymic cortex [quizlet.com]

• Confusion

  Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances Alpha-2 plasmin inhibitor results are potentially affected by: -Heparin, unfractionated [mayocliniclabs.com]

  Two disorders that might be confused for abuse are outlined. [pediatrics.aappublications.org]

• Hyperactivity

  Erythrocyte Lactate Transporter Defect Escobar Syndrome Essential Fructosuria Ethylmalonic Aciduria Excessive Daytime Sleepiness Exostoses, Multiple, Type II Extrapyramidal Movement Disorder Fabry Disease Faciogenital Dysplasia with Attention Deficit Hyperactivity [sequencing.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]

In addition to routine coagulation studies, the workup for patients with possible alpha2-PI deficiency includes antigenic and functional alpha2-PI assays, which are performed in specialized laboratories (see Workup). [emedicine.medscape.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]

[…] 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]

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

[…] in the reversal of oral anticoagulant therapy: An open, prospective randomized controlled trial. [2006] Individualized dosing regimen for prothrombin complex concentrate more effective than standard treatment in the reversal of oral anticoagulant therapy [druglib.com]

[…] 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]

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]

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]

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]

Alpha 2-Antiplasmin Deficiency Disease Overview Background Etiology Epidemiology The congenital deficiency of alpha 2-antiplasmin (also referred to as alpha 2-plasmin inhibitor) was first described by Masateru Kohakura in 1969 in a child living on the [rarecoagulationdisorders.org]

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]

Alpha 2-Antiplasmin Deficiency Disease Overview Background Etiology Epidemiology The congenital deficiency of alpha 2-antiplasmin (also referred to as alpha 2-plasmin inhibitor) was first described by Masateru Kohakura in 1969 in a child living on the [rarecoagulationdisorders.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]

In this way α2-PI prevents Plasminogen binding to fibrin. α2-PI accounts for approximately 90% of Plasmin inhibition in vivo. Plasmin is also inactivated by α2-macroglobulin. [practical-haemostasis.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]