Inherited and Acquired Disorders of Platelet Function

Abstract

Platelet function defects are caused by rare congenital or, more frequently, by acquired disorders. They may lead to bleeding or thrombotic tendencies despite of normal platelet counts. The corresponding symptoms are often quite heterogeneous. A disorder of platelet function is suspected on the basis of case and family history, physical examination and platelet function tests. The so far primary screen of platelet dysfunctions, the bleeding time, is neither very sensitive nor specific and depends very much on the skills of the person that performs the test. Therefore, other general and in addition more specialised laboratory tests have to be performed for diagnosing an isolated platelet abnormality or in most cases combined platelet function defects. An approach to diagnosing a platelet disorder is presented, which supports the high significance of flow cytometry in platelet function analysis. Furthermore, we like to elucidate that in most cases a platelet-mediated haemostatic disorder cannot be characterised by just a single function defect, but rather by a combination of platelet functional abnormalities. Detailed knowledge of the platelet disorder is necessary for adequate therapeutical management of the individual patient, including the control of the underlying disease in acquired disorders, transfusion of platelets and administration of haemostatic drugs.

Perioperative Coagulation Management and Control of Platelet Transfusion by Point-of-Care Platelet Function Analysis

“…Since standard methods of platelet function analysis -like Born aggregometry and flow cytometry -are subjected to specialised laboratories, because of the complexity of the tests, perioperative platelet diagnostics is limited primarily to the platelet count, and the response to platelet transfusion is monitored by calculating the platelet-corrected count increment (CCI) and by the clinical parameter 'bleeding stopped' [27][28][29]. Experiences and studies of the last years have shown that POC-suitable coagulation and platelet function analyzers can be helpful in detection of perioperative platelet function disorders and for decisions in context with the therapy with PC, coagulation factor concentrates, and haemostatic drugs.…”

Diagnostic Methods for Platelet Function Analysis

“…pregnancy, as well as deficiency of FXIII should be considered in differential diagnosis. Secondary functional platelet defects due to drugs or antiplatelet medication [65] or due to underlying disease, particularly myeloproliferative syndromes or liver and renal diseases [9], should be excluded.…”

“…The inherited platelet Gp defects constitute a group of very rare disorders of combined structural and functional platelet disturbances [1,[9][10][11]. The common denominator of these defects is an impaired platelet adhesion, activation and clot formation at sites of vascular injury.…”

Cellular Haemostaseology – Diagnosis and Therapeutic Monitoring of Inherited and Acquired Functional Platelet Disorders

“…In this first part of reviews on 'cellular haemostaseology, Kerstin Jurk and Beate Kehrel [1] provide an eminent exhaustive classification of inherited and acquired disorders of platelet function. Not only are the clinical features described in detail, but also the pathophysiology and the involved defect are clearly outlined, enabling the development of a systematic diagnostic schedule.…”