A neonatal presentation of factor V deficiency: A case report

BACKGROUND: Factor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability. CASE PRESENTATION: A 6-day-old Pakistani boy was admitted with bleeding from the left nipple. His parents were first cousins. A coagulation screen showed a prothrombin time of 41 s (control 14 s), a partial thromboplastin time of 132 s (control 33 s) and a normal thrombin time of 15 s (control 14 s). Factor V activity was <0.01 IU/ml. Oral tranexamic acid was started. At 5 weeks of age the child presented with irritability, lethargy and reduced feeding and a drop of hemoglobin to 5.6 g/dl. A cranial computed tomography scan showed a right intra-cerebral bleed extending from the frontal lobe to the parieto-occipital region with shift of the midline to the left. A regime of 20 ml/kg of fresh frozen plasma four times a week was instituted and has prevented further bleeds up to the present age of 21 months. Neurodevelopment remained normal. CONCLUSION: This case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Nipple bleeding may be the first presentation of a congenital bleeding disorder. In cases of factor V deficiency where factor concentrates are not available long term use of fresh frozen plasma can prevent potentially life threatening bleeding

Toward harmonization of interpretive commenting of common laboratory tests

Interpretive commenting (IC) is an integral part of postanalytical activities of laboratories when the clinical interpretation of laboratory results in the context of the clinical situation of a patient is provided. Harmonizing practices in IC can be an approach to ensure high-quality comments, which if followed by adequate clinical actions has a great potential in improving patient outcomes. This paper reviews basic work prior to harmonization of IC of common laboratory test results. Practices in IC are considerably diverse both within and between countries. The quality of comments is diverse and often clinically misleading in studies that characterize and estimate error prevalence in IC. Systems that can initiate, monitor, and maintain harmonization in IC are in an evolving state. Despite international initiatives, harmonized, implementable performance indicators and goals in IC are not yet available. External quality assurance (EQA) schemes are accessible mainly in English-speaking countries. A proposal for the standard structure of EQA schemes for interpretive comments in clinical chemistry and best practice recommendations for IC are available. Few studies that demonstrate evidence on the clinical utility of IC are available in the literature. To set a strategy on further steps toward harmonization in IC, well-controlled clinical studies need to be conducted, in collaboration with laboratories and their users on the clinical usefulness of IC. Until enough evidence on the value of IC in patient outcomes accumulates, standards of qualification and training for performing IC and more EQA schemes in native languages of the users are required to improve the quality of IC

An international study of how laboratories handle and evaluate patient samples after detecting an unexpected APTT prolongation

PubMed ID: 26023801Background: An unexpectedly detected prolonged activated partial thromboplastin time (APTT) can be a harmless laboratory finding, but can also reflect a thrombotic tendency or a bleeding disorder. The assistance of laboratory professionals in the interpretation of an unexpectedly detected prolonged APTT (uAPTT) is often required. The way in which uAPTTs are evaluated in laboratories was assessed in this international study with the aim of determining whether laboratory professionals are able to fulfill this need. Methods: Postanalytical practices after uAPTT were investigated and the mixing study methodology (if used) was studied by circulating a case report with a questionnaire to staff in the invited laboratories. In addition, the interpretations of those staff regarding the presence or absence of inhibitors in three APTT mixing study scenarios were examined. Results: Large within- and between-country variations were detected in both postanalytical practices and mixing study methodologies among the 990 responding laboratories, 90% of which were in 13 countries. Shortcomings regarding the investigation of uAPTTs leading to potentially incorrect or delayed clinical diagnoses were found in 88% of the laboratories. Of the laboratories to which the interpretative questions were sent, 49% interpreted all mixing study scenarios correctly. uAPTTs were investigated appropriately and all mixing study scenarios interpreted correctly in parallel in only 9.6% of the participating laboratories. Conclusions: The clinical requirement for the assistance of laboratory professionals in the interpretation of uAPTTs cannot be met at most of the participating laboratories. Laboratory professionals should be trained in the evaluation of ordinary laboratory tests, such as that for uAPTTs. © 2015 by De Gruyter.Acknowledgments: We thank all of the staff at the participating laboratories who responded to our survey. We are also thankful for EQALM and its member organizations for distributing invitations for this study to the participants. We thank especially those External Quality Assessment organizers who assisted this project in countries providing more than 20 responses each, which were as follows: Ö QUASTA (Austrian Society for Quality Assurance and Standardization of Medical Laboratory Tests), Vienna, Austria; CSMBLM (Croatian Society of Medical Biochemistry and Laboratory Medicine, CROQALM Programme), Zagreb, Croatia; DEKS (Danish Institute for External Quality Assurance for Laboratories in Health Care) Herlev, Denmark; CTCB (Centre Toulousain pour le Contrô le de qualité en Biologie clinique), Toulouse, France; RfB (Reference Institute for Bioanalytics), Bonn, Germany; Qualicont (In Vitro Diagnostic Quality Control Nonprofit Public Utility Ltd.), Szeged, Hungary; IEQAS (Irish EQA Scheme), Dublin, Ireland; Centro di Ricerca Biomedica of Veneto Region, Padova, Italy; NKK (Norwegian Clinical Chemistry EQA Program), Bergen, Norway; PNAEQ (Programa Nacional de Avalia ç ã o Externa da Qualidade), Lisbon, Portugal; CSCQ (Quality Control Center Switzerland), Ch ê ne-Bourg, Switzerland; SEKK, Pardubice, Czech Republic; SKML (Dutch Foundation for Quality Assessment in Medical Laboratories, Section Coagulation), Nijmegen in liason with ECAT Foundation, Voorschoten, The Netherlands. We are also grateful for Joseph Watine for his useful comments during the project and to Csilla P á l and S á ndor Kecskem é ti for their excellent technical assistance. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. Financial support: None declared. Employment or leadership: None declared. Honorarium: None declared. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication. -

Anti-factor V auto-antibody in the plasma and platelets of a patient with repeated gastrointestinal bleeding

Development of autoantibody against coagulation factor V (FV) is a rare clinical condition with hemorrhagic complications of varying severity. The aim of this study was to establish the pathomechanism of an acquired FV deficiency and characterize the FV inhibitor responsible for the clinical symptoms. A 78-year-old female was admitted to hospital with severe gastrointestinal bleeding. General clotting tests and determination of clotting factors were performed by standard methods. FV antigen and FV containing immune complexes were measured by ELISA. The FV molecule was investigated by Western blotting and by sequencing the f5 gene. The binding of patient's IgG to FV and activated FV (FVa) was demonstrated in an ELISA system and its effect on the procoagulant activity of FVa was tested in clotting tests and in a chromogenic prothrombinase assay. Localization of the epitope for the antibody was performed by blocking ELISA. FV activity was severely suppressed both in plasma and platelets. FV antigen levels were normal by ELISA using polyclonal anti-FV antibody or monoclonal antibody against the connecting region of FV, but depressed when HV1 monoclonal antibody against the C2 domain in the FV light-chain was used as capture antibody. The FV molecule was found intact. An IgG reacting with both FV and FVa was present in the patient's plasma and its binding to FV was inhibited by HV1 antibody. FV-containing immune complexes were detected in the patient's plasma and platelet lysate. The patient's IgG inhibited the procoagulant function of FVa. An anti-FV IgG was present in the patient's plasma and platelets. The autoantibody reacted with an epitope in the C2 domain of FV light chain and neutralized the procoagulant function of FVa

Are standardized algorithms used in clinical practice in seven different European countries to aid in the diagnostic work-up for suspected venous thromboembolism?

WOS: 00033183360341

Anti-factor V auto-antibody in the plasma and platelets of a patient with repeated gastrointestinal bleeding

újratöltve - bibEBI0001926