Literature DB >> 22160061

What to do when you suspect an inherited platelet disorder.

Michele P Lambert1.   

Abstract

Inherited platelet disorders (IPDs) comprise a heterogenous group of diseases that include defects in platelet function and disordered megakaryopoiesis. Some IPDs overlap as both defects in function and thrombopoiesis, resulting in both altered aggregation and/or secretion and thrombocytopenia. This review examines the key features of the presentation of IPDs in children and adults and presents a diagnostic algorithm for the evaluation of these patients. In addition, recent advances in our understanding of the pathophysiology of platelet disorders are addressed, with attention given to some of the novel genetic associations. Finally, treatment options and future therapies are briefly discussed.

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Year:  2011        PMID: 22160061     DOI: 10.1182/asheducation-2011.1.377

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


  6 in total

Review 1.  Diagnostic workup of inherited platelet disorders.

Authors:  Bohyun Kim
Journal:  Blood Res       Date:  2022-04-30

2.  Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies.

Authors:  Mohammad Taghi Arzanian
Journal:  Iran J Pediatr       Date:  2016-07-18       Impact factor: 0.364

3.  Refractory chronic "ITP": When platelet size matters.

Authors:  Panagiotis Baliakas; Magdalena Kättström; Maria Rossing; Rose-Marie Amini
Journal:  Clin Case Rep       Date:  2018-07-20

4.  Genetic classification and confirmation of inherited platelet disorders: current status in Korea.

Authors:  Ye Jee Shim
Journal:  Clin Exp Pediatr       Date:  2020-02-06

5.  When to suspect inherited platelet disorders and how to diagnose them.

Authors:  Eun Sil Park
Journal:  Clin Exp Pediatr       Date:  2020-02-05

6.  Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.

Authors:  Isabel Sánchez-Guiu; Ana I Antón; José Padilla; Francisco Velasco; José F Lucia; Miguel Lozano; Ana Rosa Cid; Teresa Sevivas; María F Lopez-Fernandez; Vicente Vicente; Consuelo González-Manchón; José Rivera; María L Lozano
Journal:  Orphanet J Rare Dis       Date:  2014-12-24       Impact factor: 4.123

  6 in total

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