Heritable platelet disorders: an enigma even guidelines can’t unravel

2021 ◽  
Author(s):  
James B. Bussel ◽  
Ellinor Peerschke
Keyword(s):  
Platelet Disorders

Modern approach to diagnosis of inherited functional platelet disorders

2017 ◽  
Vol 16 (1) ◽  
pp. 83-95
Author(s):  
D.V. Fedorova ◽  
◽  
P.А. Zharkov ◽  
S.A. Plyasunova ◽  
E.A. Seregina ◽  
...  
Keyword(s):  
Modern Approach ◽  
Platelet Disorders

scholarly journals The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology

2021 ◽  
Vol 19 (5) ◽  
pp. 1364-1371
Author(s):  
Paolo Gresele ◽  
Emanuela Falcinelli ◽  
Loredana Bury ◽  
Alessandro Pecci ◽  
Marie‐Christine Alessi ◽  
...  
Keyword(s):  
Assessment Tool ◽  
Bleeding Events ◽  
Platelet Disorders ◽  
Platelet Physiology

Coagulopathies

2020 ◽  
Author(s):  
Michael Levine
Keyword(s):  
Key Words ◽  
Bleeding Disorder ◽  
Von Willebrand Disease ◽  
Coagulation Cascade ◽  
Bleeding Disorders ◽  
Platelet Disorders ◽  
Von Willebrand

Coagulopathy can be caused by numerous hereditary or acquired etiologies. Although some of these conditions are known and the patient is aware of the bleeding disorder, other bleeding disorders are diagnosed only after the onset of excessive hemorrhage. This review discusses both hereditary and acquired disorders of coagulopathy. Platelet disorders are discussed elsewhere. This review contains 2 figures, 7 tables, and 72 references. Key words: Coagulopathies; Coagulopathy; Bleeding disorder; Hereditary bleeding disorder; Acquired bleeding disorder; von Willebrand disease; Hemophilia; Coagulation cascade; Hemorrhage; Anticoagulant-associated hemorrhage

scholarly journals Diagnosing Inherited Platelet Disorders: Modalities and Consequences

2021 ◽  
Author(s):  
Carlo Zaninetti ◽  
Martina Wolff ◽  
Andreas Greinacher
Keyword(s):  
Hematological Malignancies ◽  
Ethical Issues ◽  
Diagnostic Delay ◽  
Bleeding Tendency ◽  
Platelet Morphology ◽  
Laboratory Characterization ◽  
Platelet Disorders ◽  
And Function ◽  
Generation Sequencing

AbstractInherited platelet disorders (IPDs) are a group of rare conditions featured by reduced circulating platelets and/or impaired platelet function causing variable bleeding tendency. Additional hematological or non hematological features, which can be congenital or acquired, distinctively mark the clinical picture of a subgroup of patients. Recognizing an IPD is challenging, and diagnostic delay or mistakes are frequent. Despite the increasing availability of next-generation sequencing, a careful phenotyping of suspected patients—concerning the general clinical features, platelet morphology, and function—is still demanded. The cornerstones of IPD diagnosis are clinical evaluation, laboratory characterization, and genetic testing. Achieving a diagnosis of IPD is desirable for several reasons, including the possibility of tailored therapeutic strategies and individual follow-up programs. However, detailed investigations can also open complex scenarios raising ethical issues in case of IPDs predisposing to hematological malignancies. This review offers an overview of IPD diagnostic workup, from the interview with the proband to the molecular confirmation of the suspected disorder. The main implications of an IPD diagnosis are also discussed.

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