Homozygous deficiency of protein c with neonatal deep vein thrombosis and new symptoms at young age

AbstractThrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. The aim of this study was to determine the prevalence and associated risks of V Leiden (G1691A), Prothrombin (G20210A), and MTHFR (C677T) mutations in Saudi women with Deep Vein Thrombosis (DVT) and women with recurrent pregnancy loss (RPL). Protein C and protein S activity were measured to determine combined effects, if any. We examined 60 women with a history of DVT and 60 with RPL, extracted DNA from EDTA blood and determined three mutations by using multiplex PCR reactions followed by Strip Assay KIT. Pro C Global assay was used to determine the cutoff value [PCATNR = 0.80]. Protein C/S chromogenic assay was used to estimate protein C and S percentages. Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). In women with RPL the three mutations did not show any significant association, levels of Protein C, protein S and PCAT-NR in patient groups not different from controls (P > 0.05). In conclusion, we recommend expanding on these data to provide larger-scale studies.

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Relation between Endothelial Protein C Receptor Gene Polymorphisms rs867186 and rs9574, and the Risk of Deep Vein Thrombosis in Sudanese

OALib ◽

10.4236/oalib.1102310 ◽

2016 ◽

Vol 03 (01) ◽

pp. 1-8

Author(s):

Hytham Ahmed Abuagla ◽

Awad Omer Ahmed ◽

Ahmed Kamal Bolad ◽

Khalid Mohamed Adam

Keyword(s):

Deep Vein Thrombosis ◽

Gene Polymorphisms ◽

Protein C ◽

Receptor Gene ◽

Endothelial Protein C Receptor ◽

Vein Thrombosis ◽

Receptor Gene Polymorphisms ◽

Deep Vein

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Protein C Inhibitor and Other Components of the Protein C Pathway in Patients with Acute Deep Vein Thrombosis during Heparin Treatment

Thrombosis and Haemostasis ◽

10.1055/s-0038-1645051 ◽

1990 ◽

Vol 63 (03) ◽

pp. 380-382 ◽

Cited By ~ 18

Author(s):

D Tabernero ◽

F España ◽

V Vicente ◽

A Estellés ◽

J Gilabert ◽

...

Keyword(s):

Deep Vein Thrombosis ◽

Protein C ◽

Normal Values ◽

Protein S ◽

Mean Value ◽

Vein Thrombosis ◽

Heparin Treatment ◽

Protein C Inhibitor ◽

Acute Deep Vein Thrombosis ◽

Deep Vein

SummaryThe protein C inhibitor (PCI) concentration and other parameters of the protein C pathway were studied in 19 patients with symptomatic acute deep vein thrombosis before and during the first 5 days of heparin treatment. The mean levels of PCI antigen and activity decreased rapidly and significantly during the first day of heparin therapy from 83 and 81% to 60 and 59% of the pooled normal human plasma (p <0.01), respectively, and to 56 and 54% after 5 days of treatment (p <0.01). In contrast, antithrom-bin III decreased progressively 25% during 5 days of heparin treatment. Protein C antigen and activity and total protein S remained unchanged during heparin treatment. Free protein S was decreased before heparin treatment (83%, p <0.05) and increased to normal values after 5 days of treatment. C4b-binding protein was significantly increased before and during heparin treatment (p <0.01). Activated protein C (APC) complexed to its two major plasma inhibitors, PCI and α1-antitrypsin (α1AT) were measured by specific ELISA’s. Before treatment, 18 of the 19 patients studied had increased levels of APC: α1AT complexes with a mean value of 27 ± 22 ng/ml (range, 6−86 ng/ml) compared to normal values (8 ± 2 ng/ml) and 12 of the patients also had detectable APC:PCI complex levels with a mean value of 11 ±17 ng/ml (range, 5−68 ng/ml). Both APC:inhibitor complexes decreased significantly during heparin treatment.

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On the Significance of Antithrombin-III, α2-Macroglobulin, α2-Antiplasmin, Histidine-Rich Glycoprotein, and Protein C in Patients with Acute Myocardial Infarction and Deep Vein Thrombosis

Thrombosis and Haemostasis ◽

10.1055/s-0038-1657883 ◽

1985 ◽

Vol 54 (02) ◽

pp. 503-505 ◽

Cited By ~ 7

Author(s):

Jørgen Gram ◽

Jørgen Jespersen

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Deep Vein Thrombosis ◽

Longitudinal Study ◽

Protein C ◽

Antithrombin Iii ◽

Clinical Signs ◽

Vein Thrombosis ◽

Α2 Macroglobulin ◽

Deep Vein

SummaryIn a longitudinal study the plasma levels of antithrombin-III, α2-macroglobulin, α2-antiplasmin, histidine-rich glycoprotein, and protein C were followed in two groups of patients with acute myocardial infarction (AMI), one with and one without deep vein thrombosis (DVT). None of the sequentially studied periods revealed significant differences between the two groups of patients. However, small but consistently higher levels of histidine-rich glycoprotein in patients with DVT suggested the existence among patients submitted for myocardial infarction of a subgroup with increased thrombophilic potential. It was concluded that the inhibitors studied are of little value as possible indicators of the presence of DVT at early stages of the disease when clinical signs are absent and when antithrombotic prophylaxis should preferably be initiated.

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High Frequency of Thrombogenic Markers in Polytransfused HbE-Thalassemia.

Blood ◽

10.1182/blood.v110.11.3983.3983 ◽

2007 ◽

Vol 110 (11) ◽

pp. 3983-3983

Author(s):

Vineeta Sharma ◽

Bijender Kumar ◽

Rajesh Ahuja ◽

Renu Saxena

Keyword(s):

Deep Vein Thrombosis ◽

Portal Vein ◽

Iron Overload ◽

Portal Vein Thrombosis ◽

Protein C ◽

Hepatic Dysfunction ◽

Protein S ◽

C Protein ◽

Vein Thrombosis ◽

Deep Vein

Abstract Thromboembolic complications have been well documented in HbE thalassemia Patients. Thrombophelic complications may be either due to genetic factors, hemostatic abnormality or due to hepatic dysfunction. The main objective of this study was to search for the actual cause of thrombophelic complication and to estimate the overall frequency of Protein C, Protein S, APCR, ATIII and MTHFR (677 C-T and 1298A-C) polymorphism in HbE-thalassemia patients. Protein C, protein S, APCR and ATIII were measured in 50 HbE thalassemia patients and 35 controls while MTHFR polymorphisms were studied in 40 HbE thalassemia patients and 35 controls. Levels of Protein C, Protein S, APCR and ATIII were reduced in 14%, 32%, 8% and 46% of HbE-Thal patients respectively and 677het*(CT), 677hom**(TT), 1298het(AC), 1298hom(CC) were 7.5%, 2.5%, 22.5% and 10% respectively. These were more frequent in older Splenectomized patients in comparison to non spelenectomized patients When the values were compared with those of controls Protein C, Protein S and ATIII showed the significant difference(P=0.001) while APCR, 677CT, 677TT, 1298AC, 1298CC showed nonsignificant difference (P= >0.05). However APCR showed significant difference when splenectomoized patients were compared with controls(P=0.01) and non splenectomized patients(P=0.03). Hepatic dysfunction as evidenced by Serum transaminase level of more than 55 IU/L and Serum albumin level less than 3g% were present in 7(14%) patients. Serum Ferritin >1000 ng/ml was observed in 7(14%) patients. Protein C and Protein S showed no correlation with Iron overload and Hepatic dysfunction, however ATIII showed significant correlation with hepatic dysfunction and APCR showed significant correlation with Iron overload. Clinically evident thrombosis was detected in 8(16%) patients. One Patient had recurrent pulmonary thromboembolism, one had developed Portal vein thrombosis Two had Cerebral vascular thrombosis and four had Deep Vein Thrombosis. Six of them were splenectomized. Although APCR and MTHFR Polymorphisms were not significant when compared with controls, two patients developed Deep vein thrombosis due to APCR while one patient having portal vein thrombosis was found to be homozygous for 677C-T. It is evident from this study that genetic factors and haemostatic alterations along with hepatic dysfunction and iron overload play a role in the development of thrombotic complications in HbE-thalassemia patients. * het = heterozygous, **homo =homozygous. Features of Thrombotic Patients Siteof thrombosis Ferritin(ng/ml) SGPT/Alb (IU/l/g %) Pro.C (%) Pro.S (%) APCR(%) ATIII(%) MTHFR polymorphism *= Low level, **= Normal level, DVT=Deep Vein Thrombosis, PVT=Portal Vein Thrombosis, PTE=Pulmonary Thromboembolism, CVT=Cerebral vascular Thrombosis PVT 690 48/3.8 78** 60** 140** 98** 677TT(homo) DVT 1200 50/4.4 75** 58** 80* 110** Negative CVT 754 26/3.6 50* 45* 160** 40* Negative DVT 1000 60/2.1 39* 64** 110* 92** Negative DVT 490 45/4.8 38* 40* 200** 89** Negative DVT 1400 35/3.4 78** 49* 129** 60* Negative CVT 489 29/3.7 80** 40* 130** 70* Negative PTE 645 58/2.8 46* 39* 130** 82* Negative

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Patients with APC Resistance Compared with Those with Other Clotting Inhibitor Deficiencies Show Later Onset of Venous Thrombosis During Oral Contraception

Clinical and Applied Thrombosis/Hemostasis ◽

10.1177/107602969500100405 ◽

1995 ◽

Vol 1 (4) ◽

pp. 274-276 ◽

Cited By ~ 7

Author(s):

Antonio Girolami ◽

Paolo Simioni ◽

Sandra Zanardi ◽

Luigi Scarano ◽

Bruno Girolami

Keyword(s):

Deep Vein Thrombosis ◽

Protein C ◽

Antithrombin Iii ◽

Activated Protein C ◽

Protein S ◽

Oral Contraception ◽

Vein Thrombosis ◽

Apc Resistance ◽

At Iii ◽

Deep Vein

The prevalence of deep vein thrombosis in female patients with antithrombin III (AT III), protein C, or protein S deficiency who are on oral contraception has been compared with that of patients with activated protein C (APC) resistance. In the latter case the prevalence was lower (36.4%) than in the AT III deficiency group (71.4%) but similar to that seen in the protein C and protein S group (25%).' Furthermore, venous thrombosis occurred with APC resistance much later than with AT III, protein C, or protein S defects. The time lag between onset of oral contraception and thrombosis (~16 cycles) was not statistically different from that seen in a group of women who were known to have no antithrombin III, protein C, or protein S defects. It appears that as far as the interaction with oral contraception is concerned APC resistance is a much less severe condition compared with other clotting inhibitor defects. Key Words: Oral contraceptive—Activated protein C resistance—Deep vein thrombosis.

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