HLA typing in a new family with fletcher factor deficiency

Raffoux, C; P, Alexandre; Perrier, P.; Briquel, Marie‐Élisabeth; Streiff, F

doi:10.1007/bf00281268

Cited by 10 publications

(6 citation statements)

References 14 publications

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“…They belonged to 56 separate kindreds [10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47]. A thrombotic event was reported in 9 of these patients belonging to 6 different families (table 1) [5,16,22,23,24,28].…”

Section: Resultsmentioning

confidence: 99%

Thrombotic Events in Patients with Congenital Prekallikrein Deficiency: A Critical Evaluation of All Reported Cases

et al. 2010

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The occurrence of thrombotic events in patients with congenital bleeding conditions has received considerable attention in recent years. The same is true for asymptomatic defects of factors of the contact phase of blood coagulation, mainly FXII. Anecdotal reports on thrombosis in patients with prekallikrein deficiency have occasionally been reported. These involved both arterial and venous thrombosis. The purpose of the present article is to analyze the stories and the clinical pictures of all 75 cases of prekallikrein deficiency published so far. Among these patients were 9 with thrombosis, 6 arterial (myocardial infarction and ischemic stroke) and 3 venous (deep vein thrombosis with or without pulmonary embolism). In 6 cases acquired thrombosis risk factors were present; in 2 cases no associated risk factors were present and in 1 case no information was supplied in this regard. One patient who presented both a stroke and a pulmonary embolism had a fatal outcome. The article clearly indicates that prekallikrein deficiency does not protect from thrombosis in spite of the severe in vitro coagulation defect.

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Section: Resultsmentioning

confidence: 99%

Thrombotic Events in Patients with Congenital Prekallikrein Deficiency: A Critical Evaluation of All Reported Cases

et al. 2010

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“…One patient needed a blood transfusion after tonsillectomy [45]. It is likely that the occasional bleeding was either due to another defect (antiplasmin deficiency, platelet rare defects or local fibrinolysis, among others) or it represented an acquired, temporary, bleeding condition (DIC or thrombocytopenia).…”

Section: Clinical Featuresmentioning

confidence: 96%

“…[45] Waddel et al Castaman et al No therapeutic measures are indicated. In the past, because of the long aPTT and owing to fear of bleeding during surgery, plasma was administered.…”

Section: Prognosis and Therapymentioning

confidence: 97%

Congenital prekallikrein deficiency

Girolami

Scarparo

Candeo

et al. 2010

Expert Review of Hematology

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The congenital deficiency of prekallikrein (PK) is a rare condition in which there is a peculiar discrepancy between a severe in vitro defect and absence of bleeding. The gene controlling PK synthesis is located on chromosome 4 and consists of 14 exons and 15 introns. Only approximately 80 cases of PK deficiency have been described in the literature. Owing to the lack of bleeding, most cases go undetected or, if detected, go unreported. Occasional bleeding or thrombosis have been reported in a few patients but this was only due to the presence of associated risk factors. It is certain that the defect does not protect from thrombosis. Diagnosis is based on the presence of a great prolongation of partial thromboplastin time and normal prothrombin time and thrombin time. The long partial thromboplastin time is fully corrected by the addition of normal plasma or normal serum and presents the unusual feature of shortening on long incubation times. Platelet and vascular tests are normal. Immunological studies allow differentiation into two types, namely cases of true deficiency, which are approximately 70% of the total, and cases with abnormal forms. PK is a glycoprotein synthesized in the liver as a single-chain peptide of 88000 Da. It mostly circulates (∼75%) as a complex with high-molecular-weight kininogen. It is cleaved by FXIIa into a heavy chain and a light chain (catalytic domain), held together by disulfide bonds. Molecular biology techniques have so far only been applied to eleven families, and these studies do not yet allow definite phenotype/genotype conclusions. The exons involved are 5, 8, 11, 14 and 15. The noncoagulative effects of PK, mainly based on the effect of kallikrein, have been studied less, since they appear to be the result of the involvement of other components of the contact phase. Kallikrein can mainly affect the formation of bradykinin from high-molecular-weight kininogen and the activation of pro-urokinase to urokinase. Bradykinin causes inflammation, vasodilatation and an increase in vessel permeability. The activation of pro-urokinase results in enhanced fibrinolysis. However, fibrinolysis has been reported to be normal or defective in these patients.

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“…On the contrary, an association with excessive bleeding has also occasionally been reported, including a few reports linking prekallikrein deficiency with excessive bleeding after surgery [14]. In addition, sporadic cases of prekallikrein deficiency associated with spontaneous bleeding have also been reported.…”

Section: Discussionmentioning

confidence: 95%

Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

Nakao

Yamane²,

Katagami³

et al. 2011

Blood Coagulation &Amp; Fibrinolysis

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Prekallikrein deficiency is a rare autosomal recessive disease not considered to be associated with a tendency for bleeding, despite marked prolongation of activated partial thromboplastin time. Currently, six kinds of mutations in the prekallikrein gene are known to be associated with prekallikrein deficiency. In this report, we describe a patient with idiopathic thrombocytopenic purpura who was recognized to have severe prekallikrein deficiency. Molecular analysis of the patient's prekallikrein gene showed a homozygous Trp499Stop nonsense mutation that has not been reported previously. The mutant allele is predicted to encode a truncated protein lacking half of the catalytic domain of prekallikrein, suggesting that the truncated protein causes prekallikrein deficiency in the patient.

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HLA typing in a new family with fletcher factor deficiency

Cited by 10 publications

References 14 publications

Thrombotic Events in Patients with Congenital Prekallikrein Deficiency: A Critical Evaluation of All Reported Cases

Thrombotic Events in Patients with Congenital Prekallikrein Deficiency: A Critical Evaluation of All Reported Cases

Congenital prekallikrein deficiency

Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

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