Diagnosis and Management of Inherited Platelet Disorders

Abstract

In clinical daily practice the definition of a bleeding tendency is rather subjective. Clinical manifestations usually include hematoma, epistaxis, menorrhagia, and severe bleeding episodes after surgery or injuries. The most common causes are disorders of primary hemostasis that occur sometimes due to platelet function disorders. Inherited thrombocytopathies are much less frequent in comparison to acquired platelet function disorders. However, congenital disorders can lead to severe bleeding tendency and are often not diagnosed. They are induced by different platelet defects based on disorders of platelet adhesion, receptors, secretion, and signal transduction. In some cases, they are associated with thrombocytopenias, giant platelets, and various comorbidities. This article gives an overview of the different defects, their diagnosis, and treatment options.

Bernard Soulier Syndrome; A Rare Bleeding Disorder

“…In BSS, platelet aggregation study is helpful but cannot be performed in patients who present with severe thrombocytopenia (<1 lakh/cmm) or history of recent platelet transfusion [8] Flowcytometry is confirmatory and should be ideally done on platelet rich plasma in order to avoid confusion with RBCs (large platelets can be confused for Red cells). [9] Genetic mutation is rarely ordered due to general unavailability of the test but is gold standard and can differentiate biosynthetic or functional defects of GP IB IX V receptor.…”

Assessment of platelet function: Laboratory and point-of-care methods

“…Platelet spreading tests, using fluorescence microscopy or scanning electron microscopy are frequently employed [154] . Platelet secretion may be evaluated measuring the concentration of several compound releasednucleotides (ATP, ADP), serotonin (5-HT), Platelet Factor 4 (PF4), beta-thromboglobulin , thrombospondin-1) by using different methodologies such as: ELISA, HPLC, fluorescence microscopy or flow cytometry [42,155,156] . The assessment of these distinct steps -platelet adhesion, secretion and interactions with circulating cells -might be helpful to better define pathological conditions related to different platelet dysfunction.…”

Clinical and Laboratory Diagnosis of Inherited Platelet Function Disorders

“…Strategies for the differential clinical and laboratory diagnosis of inherited platelet function disorders have been developed at different specialized centers and are presented in this issue [3][4][5][6]. The significant expertise of these centers should be integrated into national guidelines for the diagnosis and treatment of patients with inherited or acquired platelet function disorders that still do not exist for German-speaking countries.…”

“…The significant expertise of these centers should be integrated into national guidelines for the diagnosis and treatment of patients with inherited or acquired platelet function disorders that still do not exist for German-speaking countries. The implementation of a standardized questionnaire to assess bleeding symptoms, bleeding history, family history with regard to bleeding, and medication is regarded as one of the most important diagnostic modules [3,4]. Such questionnaires could be easily used even at non-specialized facilities and should be part of a differential diagnosis of inherited/acquired platelet/coagulation disorders.…”

“…The portfolio of laboratories specialized on the diagnosis of platelet function disorders usually includes further techniques and methods in addition to standard tests (blood count, blood smear, aggregometry). This could include quantification of platelet glycoproteins by flow cytometry and Western blotting, evaluation of the platelet ultrastructure by electron microscopy, measurement of granule secretion by ELISA or luminometry, and the identification of inclusion bodies by blood smear immunofluorescence microscopy [4][5][6]. The specialized laboratories also perform molecular genetic testing in order to elucidate the molecular basis of a platelet defect.…”