Significance of platelet function diagnostics for clarification of suspected battered child syndrome

Author:

Lohse J.,Stächele J.,Heilmann A.,Schwier F.,Schmidt U.,Erfurt C.,Knöfler R.

Abstract

SummarySummary: The manifestation of an unclear bleeding tendency in childhood calls for an extended coagulation work-up, particularly when a battered child syndrome is suspected and typical concomitant injuries are absent. The chosen diagnostic tests should be able to detect the presence of relatively common coagulation defects such as von Willebrand syndrome or hemophilia, but also rare diseases such as inherited thrombocytopathies. The PFA-100® test does not help to provide a definite diagnosis especially in cases of mild inherited thrombocytopathies, since in most cases the PFA-100® test results are normal. For this purpose, specific platelet function testing is needed. However, the methods are only available in some coagulation laboratories. Also, other limitations need to be taken into consideration such as pre-analytical problems and difficulties in the interpretation of test results especially in infants.We present two cases that were diagnosed with an aspirin-like defect as an inherited thrombocytopathy, even though their PFA-100 closure times were within the normal range. Based on pathological findings in the platelet aggregometry test, this diagnosis could be made.

Funder

Division of Paediatric Haematology and Oncology, University of British Columbia

Publisher

Georg Thieme Verlag KG

Subject

Hematology

Reference17 articles.

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2. AWMF-Leitlinie 2012: Thrombozytopathien. AWMF-Leitlinien-Registernummer 086/003, www.awmf.org/uploads/tx_szleitlinien/086-003l_S2k_Thrombozytopathien_2012-10.pdf#

3. Hautblutungen bei Kindern

4. Clinical Utility of the PFA-100

5. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment

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