Anticardiolipin Antibodies and Protein S Deficiency: Two Case Reports

2002 ◽  
Vol 17 (3-4) ◽  
pp. 141-142
Author(s):  
J. M. P. de Godoy ◽  
D. M. Braile ◽  
M. A. Ruiz
Keyword(s):  
Venous Thrombosis ◽  
Case Reports ◽  
Oral Anticoagulants ◽  
Young Patients ◽  
Protein S ◽  
Clinical Problem ◽  
Young Age ◽  
University Hospital ◽  
Protein S Deficiency ◽  
S Deficiency

Objective: To describe episodes of venous thrombosis in two young patients with combined congenital and acquired thrombophilias. Patients: Two patients attending a university hospital with episodes of deep vein thrombosis presenting at an unusually young age were studied. Tests for thrombo-philias showed these patients had protein S deficiency combined with high titres of cardiolipin antibodies. Interventions: The patients were anticoagulated with oral anticoagulants. Results: No further episode of thrombosis was seen in either patient over the following 2 years. Cnclusions: A detailed search for inherited and acquired thrombophilias should be undertaken in patients presenting with extensive venous thrombosis at an unusually young age. Oral anticoagulants are effective in managing this clinical problem. Indefinite anticoagulation may be required in patients presenting with combined thrombophilias.

The Frequency of Type I Heterozygous Protein S and Protein C Deficiency in 141 Unrelated Young Patients with Venous Thrombosis

1988 ◽  
Vol 59 (01) ◽  
pp. 018-022 ◽  
Author(s):  
C L Gladson ◽  
I Scharrer ◽  
V Hach ◽  
K H Beck ◽  
J H Griffin
Keyword(s):  
Venous Thrombosis ◽  
Protein C ◽  
Antithrombin Iii ◽  
Young Patients ◽  
Protein S ◽  
Type I ◽  
Protein S Deficiency ◽  
Protein C Deficiency ◽  
Low Protein ◽  
S Deficiency

SummaryThe frequency of heterozygous protein C and protein S deficiency, detected by measuring total plasma antigen, in a group (n = 141) of young unrelated patients (<45 years old) with venous thrombotic disease was studied and compared to that of antithrombin III, fibrinogen, and plasminogen deficiencies. Among 91 patients not receiving oral anticoagulants, six had low protein S antigen levels and one had a low protein C antigen level. Among 50 patients receiving oral anticoagulant therapy, abnormally low ratios of protein S or C to other vitamin K-dependent factors were presented by one patient for protein S and five for protein C. Thus, heterozygous Type I protein S deficiency appeared in seven of 141 patients (5%) and heterozygous Type I protein C deficiency in six of 141 patients (4%). Eleven of thirteen deficient patients had recurrent venous thrombosis. In this group of 141 patients, 1% had an identifiable fibrinogen abnormality, 2% a plasminogen abnormality, and 3% an antithrombin III deficiency. Thus, among the known plasma protein deficiencies associated with venous thrombosis, protein S and protein C. deficiencies (9%) emerge as the leading identifiable associated abnormalities.

Free Protein S Deficiency Is a Risk Factor for Venous Thrombosis

1997 ◽  
Vol 78 (05) ◽  
pp. 1343-1346 ◽  
Author(s):  
Elena M Faioni ◽  
Carla Valsecchi ◽  
Alessandra Palla ◽  
Emanuela Taioli ◽  
Cristina Razzari ◽  
...  
Keyword(s):  
Risk Factor ◽  
Relative Risk ◽  
Venous Thrombosis ◽  
Protein S ◽  
Unexpected Finding ◽  
Reference Ranges ◽  
Protein S Deficiency ◽  
Men And Women ◽  
Free Protein ◽  
S Deficiency

SummaryA recent study suggests that protein S deficiency is not a risk factor for venous thrombosis. Since this unexpected finding would have important clinical implications if confirmed, we performed a case-control study with the aim to determine the prevalence of protein S deficiency in patients with thrombosis and in healthy individuals taken from the general population and the relative risk of thrombosis in protein S-deficient patients. Free protein S concentration was measured in 327 consecutive patients with at least one venous thrombotic episode and in 317 age- and sex-matched control individuals. Different normal reference ranges were obtained and adopted for men and women. Protein S deficiency was found in 3.1% (95% Cl: 1.5-5.2) of patients and in 1.3% of controls (95% Cl: 0.3-2.8). Ten patients and 4 control subjects had protein S deficiency, which determined a relative risk of thrombosis (sex- and age-adjusted odds ratio) of 2.4 (95% Cl: 0.8-7.9). When men and women were analyzed separately, the risk was 5.0 (95% CI: 0.6-43.6) and 1.6 (95% Cl: 0.4-6.7) respectively. PS-deficient men had more thrombotic episodes than women and later in life. Multivariate analysis established that sex was an independent determinant of the number of episodes, as was age, while PS deficiency was not. However sex and PS deficiency status were both determinants of age at first thrombotic episode.

Acute mesenteric venous thrombosis due to protein S deficiency in a pregnant woman

2009 ◽  
Vol 35 (4) ◽  
pp. 804-807 ◽  
Author(s):  
Ragıp Atakan Al ◽  
Bunyamin Borekci ◽  
Gurkan Ozturk ◽  
Mufide N. Akcay ◽  
Sedat Kadanali
Keyword(s):  
Pregnant Woman ◽  
Venous Thrombosis ◽  
Protein S ◽  
Mesenteric Venous Thrombosis ◽  
Protein S Deficiency ◽  
S Deficiency

scholarly journals A Female with Recurrent Venous Thrombosis

1970 ◽  
Vol 13 (1) ◽  
pp. 100-102
Author(s):  
Aparna Das ◽  
AKM Aminul Hoque ◽  
Ratan Dasgupta ◽  
Ahmedul Kabir ◽  
Gobinda Banik ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Venous Thrombosis ◽  
Protein S ◽  
Protein S Deficiency ◽  
Low Level ◽  
S Deficiency ◽  
Thrombophilia Screening ◽  
Recurrent Venous Thrombosis

A 50- year-old female was presented with recurrent venous thrombosis with ischemic stroke due to protein S deficiency. Other causes of recurrent venous thrombosis were excluded by different investigations. We only found low level of protein S. In most of the cases, thrombophilia screening is not usaally done. So, this report will illustrate the importance of thrombophlia screening in patient having recurrent venous thrombosis. DOI: http://dx.doi.org/10.3329/jom.v13i1.10085 JOM 2012; 13(1): 100-102

FAMILIAL TYPE I PROTEIN S DEFICIENCY ASSOCIATED WITH SEVERE VENOUS THROMBOSIS. A STUDY OF FIVE CASES

1987 ◽  
Author(s):  
C Boyer-Neumann ◽  
M Wolf ◽  
J Amiral ◽  
A M Guyager ◽  
D Meyer ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Plasma Protein ◽  
Active Form ◽  
Vena Cava ◽  
Protein S ◽  
Immunological Methods ◽  
Type I ◽  
Protein S Deficiency ◽  
Free Protein ◽  
S Deficiency

Protein S deficiency has been demonstrated in 5 members from the same family with a history of severe recurrent venous thrombosis over three generations. The propositus, a 16 year old female, had a first spontaneous thrombotic episode at age 15. Phlebography revealed a total obstruction of her left ilio-femoral vein with an extension to the vena cava. She was treated with heparin followed by oral anticoagulant therapy. The four other affected members (mother, aunts and uncle of the propositus) had also presented recurrent thrombosis with onset at a young age. The grandfather, not tested, had died from massive pulmonary embolism at age 54. The immunological assay of protein S was performed in plasma by Laurell, using a monospecific antiserum to human protein S, or by an ELISA, using a kit from Diagnostica Stago (Asserachrom Protein S). In order to separate free protein S, the functionally active form, from protein S complexed with C4-binding protein, plasma was adsorbed with 3.75 % polyethyleneglycol (PEG 6000). Following PEG precipitation, the levels of free protein S antigen remaining in the supernatant were quantitated by the usual immunological methods. In addition, two-dimensional immunoelectrophoresis (DDIE) also provided information on the distribution of both forms. In plasma protein S levels were decreased (40 to 55 % of the normal range) in two untreated patients and lower levels (17 to 20 96) were observed in the three others, including the propositus, who were under dicoumarol therapy. In PEG treated-plasma, protein S was undetectable (less than 5 %) in all patients, indicating a lack of free protein S. This was confirmed by DDIE : whereas protein S migrated as two distinct peaks, corresponding to free and complexed protein S in normal plasma, only a single peak of complexed protein S was observed in all affected patients. These results clearly demonstrate a total lack of free protein S which appears to be responsible for the thromboembolic disorder in this family as there was no deficiency of the other plasma inhibitors (antithrombin III, heparin cofactor II and protein C). According to the classification recently proposed by Comp et al., this family belongs to type I protein S deficiency, with an autosomal dominant mode of inheritance.

scholarly journals Familial protein S deficiency with a variant protein S molecule in plasma and platelets

Blood ◽  
1989 ◽  
Vol 74 (1) ◽  
pp. 213-221 ◽  
Author(s):  
HP Schwarz ◽  
MJ Heeb ◽  
R Lottenberg ◽  
H Roberts ◽  
JH Griffin
Keyword(s):  
Gene Expression ◽  
Family Member ◽  
Anticoagulant Activity ◽  
Oral Anticoagulants ◽  
Protein S ◽  
The Other ◽  
Protein S Deficiency ◽  
Functional Protein ◽  
S Deficiency ◽  
Variant Protein

Abstract A protein S deficient family presenting a variant protein S molecule in plasma and platelets is described. The propositus, age 20, and two brothers suffered from venous thrombotic disease. The propositus, the only family member studied while taking oral anticoagulants, had a protein S antigen (ag) level of 17% and undetectable activity. As demonstrated by immunoblotting both the propositus and one clinically affected brother (42% ag, 7% activity) presented variant protein S molecules of 65,000 molecular weight (mol wt) while the other clinically affected brother (64% ag, 11% activity) had only protein S with normal electrophoretic mobility of 70,000 mol wt. The mother had normal protein S levels (93% ag, 100% activity) but had both normal and variant protein S molecules and based on her functional protein S data a normal anticoagulant activity of the variant molecule is suggested. One asymptomatic but protein S deficient sister (68% ag, 9% activity) as well as the asymptomatic protein S deficient father (59% ag, 10% activity) had only protein S molecules of 70,000 mol wt. The variant protein S bound to C4b-binding protein in plasma, and differed from normal protein S in carbohydrate content. Platelets of each family member contained the same immunoblotting pattern of normal and variant protein S forms as found in plasma, consistent with the hypothesis that protein S gene expression involves codominant expression of two alleles that is similar in cells that control the synthesis of both platelet and plasma forms of protein S.

Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S

Blood ◽  
2000 ◽  
Vol 95 (6) ◽  
pp. 1935-1941 ◽  
Author(s):  
Michael Makris ◽  
Michael Leach ◽  
Nick J. Beauchamp ◽  
Martina E. Daly ◽  
Peter C. Cooper ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Protein S ◽  
Structural Defects ◽  
Protein S Deficiency ◽  
Gene Defect ◽  
Thrombotic Risk ◽  
Free Protein ◽  
First Degree Relatives ◽  
S Deficiency ◽  
Increased Risk

Abstract Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombophilic conditions, it remains the most difficult to diagnose because of phenotypic variability, which can lead to inconclusive results. We have overcome this problem by studying a cohort of patients from a single center where the diagnosis was confirmed at the genetic level. Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives. To avoid selection bias, we confined analysis of total and free protein S levels and thrombotic risk to the patients' relatives. In this group of relatives, a low free protein S level was the most reliable predictor of a PROS1gene defect (sensitivity 97.7%, specificity 100%). First-degree relatives with a PROS1 gene defect had a 5.0-fold higher risk of thrombosis (95% confidence interval, 1.5-16.8) than those with a normal PROS1 gene and no other recognized thrombophilic defect. Although pregnancy/puerperium and immobility/trauma were important precipitating factors for thrombosis, almost half of the events were spontaneous. Relatives with splice-site or major structural defects in the PROS1 gene were more likely to have had a thrombotic event and had significantly lower total and free protein S levels than those relatives having missense mutations. We conclude that persons withPROS1 gene defects and protein S deficiency are at increased risk of thrombosis and that free protein S estimation offers the most reliable way of diagnosing the deficiency.

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