Protein S deficiency and factor V Leiden gene in pregnancy

1998 ◽  
Vol 18 (2) ◽  
pp. 178-179 ◽  
Author(s):  
N. RIZK P. G. TOON D. WATSON V. JONES
Keyword(s):  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Protein S Deficiency ◽  
S Deficiency ◽  
In Pregnancy

scholarly journals Different Risks of Thrombosis in Four Coagulation Defects Associated With Inherited Thrombophilia: A Study of 150 Families

Blood ◽  
1998 ◽  
Vol 92 (7) ◽  
pp. 2353-2358 ◽  
Author(s):  
Ida Martinelli ◽  
Pier Mannuccio Mannucci ◽  
Valerio De Stefano ◽  
Emanuela Taioli ◽  
Valentina Rossi ◽  
...  
Keyword(s):  
Protein C ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Superficial Vein ◽  
Protein S Deficiency ◽  
Vein Thrombosis ◽  
S Deficiency ◽  
Superficial Vein Thrombosis ◽  
Coagulation Defects

AbstractDeficiency of the naturally occurring anticoagulant proteins, such as antithrombin, protein C and protein S, and activated protein C resistance due to the factor V Leiden gene mutation is associated with inherited thrombophilia. So far, no direct comparison of the thrombotic risk associated with these genetic defects is available. In this study, we wish to compare the lifetime probability of developing thrombosis, the type of thrombotic symptoms, and the role of circumstantial triggering factors in 723 first- and second-degree relatives of 150 index patients with different thrombophilic defects. We found higher risks for thrombosis for subjects with antithrombin (risk ratio 8.1, 95% confidence interval [CI], 3.4 to 19.6), protein C (7.3, 95% CI, 2.9 to 18.4) or protein S deficiency (8.5, 95% CI, 3.5 to 20.8), and factor V Leiden (2.2, 95% CI, 1.1 to 4.7) than for individuals with normal coagulation. The risk of thrombosis for subjects with factor V Leiden was lower than that for those with all three other coagulation defects (0.3, 95% CI, 0.1 to 1.6), even when arterial and superficial vein thromboses were excluded and the analysis was restricted to deep vein thrombosis (0.3, 95% CI, 0.2 to 0.5). No association between coagulation defects and arterial thrombosis was found. The most frequent venous thrombotic manifestation was deep vein thrombosis with or without pulmonary embolism (90% in antithrombin, 88% in protein C, 100% in protein S deficiency, and 57% in factor V Leiden), but a relatively mild manifestation such as superficial vein thrombosis was common in factor V Leiden (43%). There was a predisposing factor at the time of venous thromboembolism in approximately 50% of cases for each of the four defects. In conclusion, factor V Leiden is associated with a relatively small risk of thrombosis, lower than that for antithrombin, protein C, or protein S deficiency. In addition, individuals with factor V Leiden develop less severe thrombotic manifestations, such as superficial vein thrombosis.

scholarly journals Different Risks of Thrombosis in Four Coagulation Defects Associated With Inherited Thrombophilia: A Study of 150 Families

Blood ◽  
1998 ◽  
Vol 92 (7) ◽  
pp. 2353-2358 ◽  
Author(s):  
Ida Martinelli ◽  
Pier Mannuccio Mannucci ◽  
Valerio De Stefano ◽  
Emanuela Taioli ◽  
Valentina Rossi ◽  
...  
Keyword(s):  
Protein C ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Superficial Vein ◽  
Protein S Deficiency ◽  
Vein Thrombosis ◽  
S Deficiency ◽  
Superficial Vein Thrombosis ◽  
Coagulation Defects

Deficiency of the naturally occurring anticoagulant proteins, such as antithrombin, protein C and protein S, and activated protein C resistance due to the factor V Leiden gene mutation is associated with inherited thrombophilia. So far, no direct comparison of the thrombotic risk associated with these genetic defects is available. In this study, we wish to compare the lifetime probability of developing thrombosis, the type of thrombotic symptoms, and the role of circumstantial triggering factors in 723 first- and second-degree relatives of 150 index patients with different thrombophilic defects. We found higher risks for thrombosis for subjects with antithrombin (risk ratio 8.1, 95% confidence interval [CI], 3.4 to 19.6), protein C (7.3, 95% CI, 2.9 to 18.4) or protein S deficiency (8.5, 95% CI, 3.5 to 20.8), and factor V Leiden (2.2, 95% CI, 1.1 to 4.7) than for individuals with normal coagulation. The risk of thrombosis for subjects with factor V Leiden was lower than that for those with all three other coagulation defects (0.3, 95% CI, 0.1 to 1.6), even when arterial and superficial vein thromboses were excluded and the analysis was restricted to deep vein thrombosis (0.3, 95% CI, 0.2 to 0.5). No association between coagulation defects and arterial thrombosis was found. The most frequent venous thrombotic manifestation was deep vein thrombosis with or without pulmonary embolism (90% in antithrombin, 88% in protein C, 100% in protein S deficiency, and 57% in factor V Leiden), but a relatively mild manifestation such as superficial vein thrombosis was common in factor V Leiden (43%). There was a predisposing factor at the time of venous thromboembolism in approximately 50% of cases for each of the four defects. In conclusion, factor V Leiden is associated with a relatively small risk of thrombosis, lower than that for antithrombin, protein C, or protein S deficiency. In addition, individuals with factor V Leiden develop less severe thrombotic manifestations, such as superficial vein thrombosis.

scholarly journals Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1700-1707 ◽  
Author(s):  
NJ Beauchamp ◽  
ME Daly ◽  
PC Cooper ◽  
M Makris ◽  
FE Preston ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Factor V Leiden ◽  
Protein S ◽  
Additional Risk Factor ◽  
Type I ◽  
Factor V ◽  
Protein S Deficiency ◽  
Free Protein ◽  
S Deficiency ◽  
Fv Leiden

The molecular basis of type I or III Protein S deficiency has been investigated in three kindred also showing independent inheritance of factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was identified in the propositi and shown to segregate with protein S deficiency in all but one of the affected members of two kindred. This individual was heterozygous for a second transition (C to T) causing substitution of serine 624 by leucine. A second member of the same family, with markedly reduced free protein S levels when compared with affected relatives, was heterozygous for both mutations. Haplotype analysis of individuals with the mutated ATG570ACG allele in the two kindred suggested they may have been related by a common ancestor. A G to A transition resulting in substitution of cysteine 145 by tyrosine was detected in the third kindred. All mutations are believed to interfere with protein S binding to C4b-binding protein resulting in reduced free protein S levels. Of the five individuals studied who had experienced thrombotic events, three had combined protein S deficiency and FV Leiden reemphasising the importance of FV Leiden as an additional risk factor for thrombosis in protein S deficiency.

Purpura Fulminans Induced by Disseminated Intravascular Coagulation following Infection in 2 Unrelated Children with Double Heterozygosity for Factor V Leiden and Protein S Deficiency

1997 ◽  
Vol 77 (06) ◽  
pp. 1086-1089 ◽  
Author(s):  
Aida Inbal ◽  
Gilly Kenet ◽  
Ariella Zivelin ◽  
Tikva Yermiyahu ◽  
Tamar Bronstein ◽  
...  
Keyword(s):  
Disseminated Intravascular Coagulation ◽  
Viral Infections ◽  
Purpura Fulminans ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Protein S Deficiency ◽  
Intravascular Coagulation ◽  
Inhibitory Mechanisms ◽  
S Deficiency

SummaryPurpura fulminans is associated with homozygous protein C and homozygous protein S deficiency or may follow bacterial or viral infections. We present 2 children from 2 unrelated Arab families with purpura fulminans who were double heterozygotes for factor V Leiden inherited from their fathers and protein S deficiency inherited from their mothers. No previous thrombotic events have occured in either patient or their respective family members. In one patient sepsis accompanied by disseminated intravascular coagulation appeared to be the trigger of purpura fulminans. In the other patient varicella infection preceded purpura fulminans and was also associated with disseminated intravascular coagulation. This report emphasizes the need for evaluation of hereditary defects in the inhibitory mechanisms of blood coagulation in patients with purpura fulminans at any age.

Severe Protein S Deficiency Associated with Heterozygous Factor V Leiden Mutation in a Child with Purpura Fulminans

2003 ◽  
Vol 20 (1) ◽  
pp. 1-5 ◽  
Author(s):  
Yasar Dogan ◽  
Denizmen Aygun ◽  
Yelda Yılmaz ◽  
Guler Kanra ◽  
Gulten Secmeer ◽  
...  
Keyword(s):  
Purpura Fulminans ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Protein S Deficiency ◽  
Factor V Leiden Mutation ◽  
S Deficiency
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