Some inherited platelet disorders may be revealed late, as in the presented case of a 68-year-old-man. Recurrent epistaxis following peri-interventional antiplatelet therapy (after three elective percutaneous coronary interventions) and an episode of upper gastrointestinal haemorrhage required aspirin withdrawal and less frequent clopidogrel use. Platelet studies showed an aspirin-like defect resulting in a lack of arachidonate-induced platelet aggregation. During dose-reduced (2-3 times a week) clopidogrel administration ADP-induced platelet aggregation was effectively inhibited and neither important bleeding nor stent thrombosis occurred. The inherited defect of cyclooxygenase-1, responsible for platelet thromboxane synthesis, did not protect the patient against coronary and extra-cardiac atherosclerosis.

Download full-text PDF

Source

Publication Analysis

Top Keywords

aspirin-like defect
8
platelet aggregation
8
platelet
5
[antiplatelet therapy
4
therapy unmask
4
unmask inherited
4
inherited bleeding
4
bleeding disorder
4
disorder aspirin-like
4
defect platelets
4

Similar Publications

A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain attacks accompanied by macrohaematuria. In renal biopsy, the preglomerular vessels showed segmental wall hyalinosis in the sense of low-grade nephrosclerosis, and glomerular capillaries with slightly but diffusely thickened, non-split basal membranes on electron microscopy. Notable were irregularly deformed, different dense erythrocytes in the glomerular capillaries, and several tubular lumina.

View Article and Find Full Text PDF

Background Platelet transfusions may be indicated to prevent and treat bleeding in patients with quantitative or qualitative platelet defects. Millions of platelet components are transfused worldwide. It is well known that platelet dysfunction predicts blood loss after surgery.

View Article and Find Full Text PDF

We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy). We report that in the homozygous state within a large consanguineous family this variant is associated with a bleeding phenotype and alterations in platelet reactivity and eicosanoid production. Western blotting and confocal imaging demonstrated that COX-1 was absent in the platelets of three family members homozygous for the PTGS1 variant but present in their leukocytes.

View Article and Find Full Text PDF

Chronic hemorrhagic diathesis in patients showing normal levels of plasmatic clotting factors strongly suggests for congenital platelet disorders. We report on a pediatric patient (male, 3 years, D1) with mild bleeding. A sibling (D2), his mother (D3) and father (D4) were included for laboratory investigation.

View Article and Find Full Text PDF

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

Hamostaseologie

August 2015

Priv.-Doz. Dr. med. Ralf Knöfler, Medizinische Fakultät der TU Dresden, Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Pädiatrische Hämostaseologie, Fetscherstr. 74, Tel. +49/(0)351/458 47 99, Fax +49/(0)351/458 57 88, E-mail:

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!