Congenital bleeding disorders with long bleeding time and normal platelet count

Larrieu, M J; Caen, Jacques P.; Meyer, Dominique; Vainer, H; Sultan, Yvette; Bernard, J

doi:10.1016/0002-9343(68)90070-3

Cited by 93 publications

(24 citation statements)

References 35 publications

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“…Early clinical studies indicate that, whatever the BT, softtissue and postoperative bleeding can be stopped providing satisfactory postinfusion VII1:C levels are attained [3,15,16,22]. Our experience in this and another study [23] is consistent with this concept.…”

Section: Discussionsupporting

confidence: 83%

Correction of the bleeding time in treated patients with severe von willebrand disease is not solely dependent on the normal multimeric structure of plasma von willebrand factor

Moia

Rebulla

et al. 1987

American J Hematol

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Even though it is generally held that cryoprecipitate and fraction I-O correct the prolonged bleeding time (BT) in patients with von Willebrand disease (VWD), perusal of reported data indicates that the correction is usually short-lasting and often partial. We decided to do a controlled study of the relationship between the multimeric structure of von Willebrand factor (VWF) and the BT in five patients with severe (type III) VWD after infusion of three plasma concentrates ("wet" cryoprecipitate, lyophilized cryoprecipitate, and fraction I-O) given in random order. The dosage of concentrates was tailored from in vitro measurements to achieve post-infusion levels of ristocetin cofactor above the lower normal limit (50 U/dL) for at least 3 hours. The postinfusion BT became transiently normal in only two of five patients treated with wet cryoprecipitate, whereas it remained prolonged in all five patients treated with lyophilized cryoprecipitate or fraction I-O. For all the concentrates, the proportion of large VWF multimers calculated by scanning the electrophoretic gels were the same as those for normal standard plasmas. An intact multimeric structure was recovered in postinfusion plasmas of patients treated with wet cryoprecipitate, whereas there was a postinfusion loss of large multimers after lyophilized cryoprecipitate and fraction I-O. These findings indicate that the attainment of a normal BT is the exception rather than the rule after the infusion of three plasma fractions used in the treatment of severe VWD, and that an intact multimeric structure in concentrates and postinfusion plasmas is necessary but not sufficient to sustain a normal BT.

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Section: Discussionsupporting

confidence: 83%

Correction of the bleeding time in treated patients with severe von willebrand disease is not solely dependent on the normal multimeric structure of plasma von willebrand factor

Moia

Rebulla

et al. 1987

American J Hematol

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“…With respect to certain important technical conditions, platelet adhesiveness to glass beads on whole blood as measured by Salzman (1963) is a useful test in the diagnosis of patients with von Willebrand's disease and of their relatives (Larrieu, Caen, Meyer, Vainer, Sultan, and Bernard, 1968). Among those technical conditions, the transit speed of blood passing through the glass bead column is the most important to consider, as O'Brien and Heywood (1967) have shown that only a high flow rate will demonstrate an abnormality in von Willebrand's disease.…”

Section: Discussionmentioning

confidence: 99%

Von Willebrand factor and platelet adhesiveness

Meyer

Larrieu

1970

J Clin Pathol

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A modification of Salzman's method has been used in an attempt to provide an assayin vitrofor the von Willebrand factor. Platelet adhesiveness was increased in von Willebrand's disease by previously coating the beads with normal or haemophilic plasma or cryoprecipitate, whereas von Willebrand plasma had no corrective effect. Antihaemophilic factor (AHF) concentrates were studied in the same way and results compared with experimentsin vivo.

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“…It is caused by a deficient or abnormal glycoprotein IIb-IIIa (GPIIb-IIIa), the platelet receptor for fibrinogen and other adhesive proteins, which is involved in platelet plug formation. Two main subgroups of Glanzmann's thrombasthenia have been described: one associated with a purely quantitative GPIIb-IIIa defect and the other with an abnormal function [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease

Pontara¹,

Gresele²,

Cattini³

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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Glanzmann thrombasthenia is a rare autosomal recessive inherited bleeding disorder characterized by the lack of platelet aggregation, caused by deficiencies and/or abnormalities of platelet GPIIb-IIIa receptor. We report a case of Glanzmann thrombasthenia combined with type 2N von Willebrand disease (VWD), a variant characterized by an impaired capacity of FVIII to bind von Willebrand factor (VWF), which results in an autosomally transmitted reduction in circulating FVIII levels. Glanzmann thrombasthenia stems from compound T1214C and G1234A mutations in the ITGA2B gene; the type 2N VWD is due to a heterozygous G2561A mutation in the VWF gene (R854Q). The haemostatic phenotype of a 48-year-old female patient was unusually characterized by a severe chronic arthropathy with loss of cartilage and the presence of subchondrial cysts involving both ankles. The arthropathy was quantified with the compatible MRI scoring system (currently used to assess arthropathy in haemophilia), reaching almost the highest score. These haemorrhagic complications are very rare in Glanzmann thrombasthenia and resemble those seen in severe haemophilia; for such, a reason we decided to explore the patient's FVIII and VWF parameters. Our findings suggest that the type 2N R854Q mutation, which is normally asymptomatic at the heterozygous level, may be expressed in the presence of a combined impairment of primary haemostasis.

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Congenital bleeding disorders with long bleeding time and normal platelet count

Cited by 93 publications

References 35 publications

Correction of the bleeding time in treated patients with severe von willebrand disease is not solely dependent on the normal multimeric structure of plasma von willebrand factor

Correction of the bleeding time in treated patients with severe von willebrand disease is not solely dependent on the normal multimeric structure of plasma von willebrand factor

Von Willebrand factor and platelet adhesiveness

Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease

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