De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.

Pseudo (or platelet-type)- von Willebrand disease (vWD) is a very rare autosomal dominant bleeding disorder caused by an abnormal hyper-responsiveness of the platelet membrane glycoprotein (GP) Ib/IX complex, the receptor for von Willebrand factor. We found a heterozygous missense mutation in the GPIb alpha gene in a sporadic case with pseudo-vWD: Met (ATG) to Val (GTG) at residue 239. The mutation was not detected in either parent.

The use of low dose Orgaran in heparin-induced thrombocytopenia associated with in vitro platelet aggregation at higher Orgaran concentrations.

We report a case of heparin-induced thrombocytopenia with in vitro antibody cross-reactivity by platelet aggregometry to both low molecular weight heparin and the heparinoid Org 10172 (Orgaran). The in vitro reactivity with Orgaran was only present at the upper limit of concentrations that would normally be used therapeutically. Low dose Orgaran therapy was initiated, allowing successful renal replacement therapy without invoking further thrombocytopenia or thrombosis.

Acquired heparin-like anticoagulants: a second case in metastatic breast carcinoma and literature review.

We report the second case of an acquired heparin-like anticoagulant in a patient with disseminated breast carcinoma. All but one of the small numbers of other cases have also been associated with an underlying malignancy. We comment on the distinction between an immunoglobulin and proteoglycan causing the antithrombin effect and suggest points of interest for consideration in any future cases together with a review of treatment options.

Quinine-induced disseminated intravascular coagulation.

Recurrent disseminated intravascular coagulation occurred in 3 women after ingestion of quinine tablets for cramp. All had circulating quinine-dependent antibodies to platelets and in 2 there was initial evidence of antibody consumption, with low titres that rose steeply over the next few days and remained high for many months.

Assessment of D dimer assays for the diagnosis of deep vein thrombosis.

Sixty-two patients with suspected deep vein thrombosis were subjected to venography and to plasma D dimer assay by both rapid latex agglutination and enzyme immunoassay methods. The latex agglutination method was insensitive to the presence of deep vein thrombosis. In contrast, the enzyme immunoassay method was sensitive although of low specificity and for technical reasons not suitable for performance as an emergency test.