Literature DB >> 34889362

Cryptogenic oozers and bruisers.

Kristi J Smock1, Karen A Moser2.   

Abstract

Bleeding disorders with normal, borderline, or nondiagnostic coagulation tests represent a diagnostic challenge. Disorders of primary hemostasis can be further evaluated by additional platelet function testing modalities, platelet electron microscopy, repeat von Willebrand disease testing, and specialized von Willebrand factor testing beyond the usual initial panel. Secondary hemostasis is further evaluated by coagulation factor assays, and factor XIII assays are used to diagnose disorders of fibrin clot stabilization. Fibrinolytic disorders are particularly difficult to diagnose with current testing options. A significant number of patients remain unclassified after thorough testing; most unclassified patients have a clinically mild bleeding phenotype, and many may have undiagnosed platelet function disorders. High-throughput genetic testing using large gene panels for bleeding disorders may allow diagnosis of a larger number of these patients in the future, but more study is needed. A logical laboratory workup in the context of the clinical setting and with a high level of expertise regarding test interpretation and limitations facilitates a diagnosis for as many patients as possible.
Copyright © 2021 by The American Society of Hematology.

Entities:  

Mesh:

Year:  2021        PMID: 34889362      PMCID: PMC8791136          DOI: 10.1182/hematology.2021000236

Source DB:  PubMed          Journal:  Hematology Am Soc Hematol Educ Program        ISSN: 1520-4383


  47 in total

1.  An update on quality control for the PFA-100/PFA-200.

Authors:  Emmanuel J Favaloro; Roslyn Bonar
Journal:  Platelets       Date:  2018-05-24       Impact factor: 3.862

Review 2.  Advances in the diagnosis and treatment of Von Willebrand disease.

Authors:  Ruchika Sharma; Veronica H Flood
Journal:  Blood       Date:  2017-11-30       Impact factor: 22.113

Review 3.  Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.

Authors:  P Gresele
Journal:  J Thromb Haemost       Date:  2015-01-22       Impact factor: 5.824

4.  Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B.

Authors:  K Kihlberg; K Strandberg; S Rosén; R Ljung; J Astermark
Journal:  Haemophilia       Date:  2017-04-24       Impact factor: 4.287

Review 5.  Von Willebrand disease type 2N: An update.

Authors:  Omid Seidizadeh; Flora Peyvandi; Pier Mannuccio Mannucci
Journal:  J Thromb Haemost       Date:  2021-03-26       Impact factor: 5.824

Review 6.  How I treat the acquired von Willebrand syndrome.

Authors:  Andreas Tiede; Jacob H Rand; Ulrich Budde; Arnold Ganser; Augusto B Federici
Journal:  Blood       Date:  2011-05-03       Impact factor: 22.113

7.  Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder.

Authors:  M S Badin; L Graf; J K Iyer; K A Moffat; J L Seecharan; C P M Hayward
Journal:  Int J Lab Hematol       Date:  2016-08-30       Impact factor: 2.877

8.  A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Authors:  Ilenia Simeoni; Jonathan C Stephens; Fengyuan Hu; Sri V V Deevi; Karyn Megy; Tadbir K Bariana; Claire Lentaigne; Sol Schulman; Suthesh Sivapalaratnam; Minka J A Vries; Sarah K Westbury; Daniel Greene; Sofia Papadia; Marie-Christine Alessi; Antony P Attwood; Matthias Ballmaier; Gareth Baynam; Emilse Bermejo; Marta Bertoli; Paul F Bray; Loredana Bury; Marco Cattaneo; Peter Collins; Louise C Daugherty; Rémi Favier; Deborah L French; Bruce Furie; Michael Gattens; Manuela Germeshausen; Cedric Ghevaert; Anne C Goodeve; Jose A Guerrero; Daniel J Hampshire; Daniel P Hart; Johan W M Heemskerk; Yvonne M C Henskens; Marian Hill; Nancy Hogg; Jennifer D Jolley; Walter H Kahr; Anne M Kelly; Ron Kerr; Myrto Kostadima; Shinji Kunishima; Michele P Lambert; Ri Liesner; José A López; Rutendo P Mapeta; Mary Mathias; Carolyn M Millar; Amit Nathwani; Marguerite Neerman-Arbez; Alan T Nurden; Paquita Nurden; Maha Othman; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Pieter Reitsma; Matthew T Rondina; Peter A Smethurst; William Stevenson; Artur Szkotak; Salih Tuna; Christel van Geet; Deborah Whitehorn; David A Wilcox; Bin Zhang; Shoshana Revel-Vilk; Paolo Gresele; Daniel B Bellissimo; Christopher J Penkett; Michael A Laffan; Andrew D Mumford; Augusto Rendon; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Ernest Turro
Journal:  Blood       Date:  2016-04-15       Impact factor: 25.476

Review 9.  Measuring fibrinolysis: from research to routine diagnostic assays.

Authors:  C Longstaff
Journal:  J Thromb Haemost       Date:  2018-02-17       Impact factor: 5.824

10.  Diagnosis of Inherited Platelet Disorders on a Blood Smear.

Authors:  Carlo Zaninetti; Andreas Greinacher
Journal:  J Clin Med       Date:  2020-02-17       Impact factor: 4.241

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