Severe prekallikrein deficiencies due to homozygous C529Y mutations

François, Dominique; Trigui, Nawel; Leterreux, Guillaume; Flaujac, Claire; Horellou, Marie‐Hélène; Mazaux, Laurence; Vignon, Dominique; Conard, J.; Mazancourt, Philippe de

doi:10.1097/mbc.0b013e328010bcde

Cited by 20 publications

(22 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Twenty-one out of the 89 patients had hypertension or hypertension-related conditions [6,8,12,14,15,[17][18][19][20][21][22][23][24][25][26][27][28][29][30]. Twelve were men and nine women (Table 1).…”

Section: Resultsmentioning

confidence: 99%

Prevalence of hypertension and its complications in congenital prekallikrein deficiency

Girolami¹,

Ferrari²,

Cosi³

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

The extra coagulation effects of prekallikrein and of the other factors of the contact phase of blood clotting have received great attention in the past few years.The clinical observation that hypertension was present in two families with congenital prekallikrein deficiency prompted a survey of all reported cases of this disorder.Altogether, 89 cases of proven prekallikrein deficiency have been described in the literature. Hypertension or vascular complications of it were found in 21 patients (12 men and nine women). If the analysis is limited to patients over 25 years of age, the number becomes 21 out of 64 cases (38.2%).This prevalence is much higher than that seen for other conditions occasionally found in patients with prekallikrein deficiency, namely hyperthyroidism, lupus erythematosus, chronic lymphocytic leukemia, kidney malformation, peptic ulcer, and myelofibrosis (1-2%).These results indicate the need to investigate further the relation between prekallikrein deficiency and hypertension.

show abstract

Section: Resultsmentioning

confidence: 99%

Prevalence of hypertension and its complications in congenital prekallikrein deficiency

Girolami¹,

Ferrari²,

Cosi³

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…Furthermore, the mutant form does not have Cys-529, which is known to play an important role in prekallikrein function. It is reported that a homozygous C529Y mutation results in severe prekallikrein deficiency [13]. Therefore, it is highly probable that the mutation leads to severe prekallikrein deficiency, although inheritance analysis for this mutation was not performed.…”

Section: Discussionmentioning

confidence: 98%

Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

Nakao

Yamane²,

Katagami³

et al. 2011

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

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.

show abstract

Severe prekallikrein deficiencies due to homozygous C529Y mutations

Cited by 20 publications

References 17 publications

Prevalence of hypertension and its complications in congenital prekallikrein deficiency

Prevalence of hypertension and its complications in congenital prekallikrein deficiency

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

Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

Contact Info

Product

Resources

About