scholarly journals Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime

2020 ◽  
Author(s):  
Adriana Watts Soares ◽  
Maria Maia ◽  
João Espirito Santo ◽  
Ana Palricas Costa ◽  
Artur Pereira ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Protein S ◽  
Pathogenic Mutation ◽  
Central Venous ◽  
Spontaneous Bleeding ◽  
Thrombotic Risk ◽  
Risk Pregnancy ◽  
S Deficiency ◽  
Central Venous Thrombosis ◽  
Life Threatening

The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient´s high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. The patient´s child was also diagnosed with hypofibrinogenaemia, later on confirmed with the pathogenic mutation Fibrinogen Marseilles II. This case was used to conduct a literature review of congenital fibrinogen disorders, rare entities that require more awareness for early diagnosis and accurate management.

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.

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

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