Clinical and Laboratory Assessment of the Bleeding Pediatric Patient

Abstract

Children presenting with bleeding symptoms pose a diagnostic challenge. The evaluation should include a comprehensive medical and bleeding history, detailed family history, a physical examination, and selected laboratory tests. Evaluation of the bleeding history should include an objective quantitation of the bleeding symptoms, followed by objective quantitation of the family members' bleeding symptoms. If a bleeding disorder is suspected, based on personal and/or family bleeding history, specific laboratory testing is needed for attaining a diagnosis. The screening tests for coagulation factor deficiencies are considered reliable, routinely available, and easy to perform. However, for primary hemostatic defects, the various screening tests have not yet proven to be reliable and thus referral for a specialized hematology consultation and specific laboratory testing are needed. Perhaps a Bayes theorem approach, combining the personal and family bleeding history with the results of a screening test for a primary hemostatic defect would prove to be useful in the identification of those children who will most benefit from specific laboratory testing.

Hemophilia in Children

“…If any newborn /child presents with unusual / prolonged bleeding is subjected for basic screening test. Carrier detection: a) Factor assay-usually lower than normal b) DNA analysis-identifies the genetic abnormality.Antenatal diagnosis: by collecting sample of chorionic villous (CVS) in 10-12 weeks of pregnancy and amniotic fluid (amniocentesis) in 16-20 weeks of pregnancy for molecular genetic testing 17 .…”

Laboratory hemostasis: milestones in Clinical Chemistry and Laboratory Medicine

“…Thrombin generation assays [23,24] along with thromboelastography [25,26] are additional useful " global " tests of hemostasis, which have not found, however, widespread application in clinical and laboratory practice. Second line assays are typically those designed to provide further insights into abnormalities of screening tests, or used to monitor more accurately some antithrombotic therapies, and thereby include clotting factors assays [27] , ristocetin-induced platelet agglutination and VWF antigen tests [28] , anticardiolipin (aCL) IgG and IgM, anti-β (2) glycoprotein I (anti-β (2) GPI) antibodies IgG and IgM and phospholipid-dependent coagulation assays [29,30] , platelet function tests such as Platelet Function Analyzer-100 (PFA-100) and aggregometry [31,32] , assays for heparin-induced thrombocytopenia [33,34] , additional tests for thrombophilia screening including resistance to activated protein C, antithrombin, proteins C and S, and genetic polymorphisms/mutations (e.g., prothrombin G20210A and factor V Leiden) [35,36] along with ecarin clotting time, chromogenic anti-factor Xa and dilute Russell viper venom time (dRVVT) for monitoring novel anticoagulants [37,38] . Both first and second line tests might be available to most clinical laboratories, whereas third line tests -which are intended to troubleshoot the most challenging conditions and encompass analyses such as VWF collagen binding, VWF ristocetin cofactor assay, VWF-FVIII binding assay, multimer and molecular analysis for the precise classification of VWD [39,40] , coagulation factors inhibitors testing [41,42] , analyses of rare thrombophilic mutations [43] , rare platelet functional disorders [44] , pharmacogenetics testing [45,46] -are occasionally used and typically available in specialized laboratories.…”

Novel Coagulation Analyzers in Development: A Glimpse toward the Future of Microfluidics

“…Monitoring of the coagulation system is essential for certain adult and pediatric patients who are at high risk for bleeding and thrombosis. 1,2 There are also specific populations of adult and pediatric patients in whom coagulation diagnostic testing is routinely performed. 3,4 Patients presenting with symptoms of thrombosis or bleeding respectively undergo screening with hypercoagulability or bleeding panel testing to identify specific coagulation defects that may predispose a patient to hemostatic disorders.…”