scholarly journals Management and therapeutic implications of combined protein C and S deficiency in pregnancy: a case report

2020 ◽  
Vol 9 (6) ◽  
pp. 2653
Author(s):  
Neha Agrawal ◽  
Navdeep Ghuman ◽  
Pratibha Singh ◽  
Priyanka Kathuria
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
The Body ◽  
Therapeutic Implications ◽  
S Deficiency ◽  
Thrombophilia Screening ◽  
Recurrent Pregnancy Losses ◽  
Immunocompromised State ◽  
Anticoagulant Prophylaxis

The pregnancy is an immunocompromised state. Thus, autoimmune diseases may affect pregnancy and get worsen during pregnancy. Here authors discuss a rare autoimmune thrombophilia disorder, protein C and S deficiency which may cause recurrent pregnancy losses by affecting haemostatic mechanisms in the body. This patient with recurrent pregnancy loss when evaluated extensively was found to have combined inherited protein C and S deficiency. It was successfully managed with thromboprophylaxis therapy, which resulted in the delivery of healthy baby. Long term anticoagulant prophylaxis should be considered weighing the risk of bleeding to thrombotic recurrence in such cases. In conclusion, combined protein C and S deficiency and that too presenting as recurrent pregnancy loss is very rare. Thrombophilia screening should be considered in cases of recurrent pregnancy losses. Adequate and appropriate thromboprophylaxis is an important part of the management of pregnant women with inherited thrombophilia.

scholarly journals Incidence of thrombophilia in patients with recurrent pregnancy loss

2020 ◽  
Vol 9 (3) ◽  
pp. 1007
Author(s):  
Ganesh Bharaswadkar
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Protein S ◽  
Anticardiolipin Antibodies ◽  
Reproductive Age ◽  
Women Of Reproductive Age ◽  
Inherited Thrombophilia ◽  
S Deficiency ◽  
Recurrent Pregnancy Losses

Background: Approximately 1-3% of women of reproductive age suffer from recurrent pregnancy loss. Objective of this study was to evaluate the association between recurrent pregnancy loss and thrombophilia.Methods: This is a descriptive study, involving retrospective analysis of patients with recurrent pregnancy losses. Patients with recurrent pregnancy loss in whom associated morbidity factors were excluded underwent screening for both acquired and inherited thrombophilia.Results: A total of 20 patients were screened for acquired and inherited thrombophilia with recurrent pregnancy loss. Thrombophilia was diagnosed in 70% cases. Out of which, anticardiolipin antibodies was found positive in 57% of patients, protein C 7% and protein S deficiency was observed in 35% cases.Conclusions: Thrombophilias are associated with recurrent pregnancy loss. Patients in whom other associated morbid factors are excluded, should be offered screening for thrombophilia. Multidisciplinary management involving hematologist is vital for management.

scholarly journals Hyperhomocysteinemia in recurrent pregnancy loss and the effect of folic acid and vitamin B12 on homocysteine levels: a prospective analysis

2017 ◽  
Vol 6 (6) ◽  
pp. 2258 ◽  
Author(s):  
Indrani Mukhopadhyay ◽  
V. Pruthviraj ◽  
Rao P. S. ◽  
Manash Biswas
Keyword(s):  
Folic Acid ◽  
Vitamin B12 ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Recurrent Miscarriage ◽  
The Body ◽  
Vitamin Supplementation ◽  
Vitamin B ◽  
History Of ◽  
A Prospective Study

Background: Recurrent pregnancy loss (RPL) affects about 5% of women. High levels of homocysteine, termed hyperhomocysteinemia, have been implicated in a number of pathologic processes in the venous and arterial vascular systems. Hyperhomocysteinemia in pregnant women has been associated with deep venous thrombosis, recurrent miscarriage, abruption placentae, preeclampsia, neural tube defects, and fetal growth restriction. This study aims at determining association between hyperhomocysteinemia and recurrent pregnancy loss and also association of folic acid (vitamin B 9) and vitamin B 12 with hyperhomocysteinemia (HHCY), in reducing its levels in the body and thus preventing obstetric complications.Methods: A prospective study of pregnant mothers booked at our hospital over a period of two years with history of unexplained RPL were included in the study and their serum homocysteine levels were assessed. Hyperhomocysteinemia (>12 micromol/l) patients were treated with folic acid and vitamin B12 supplements and homocysteine levels were assessed again, post treatment.Results: Out of the 100 patients who were assessed, 32% of RPL patients had hyperhomocysteinemia. Folic acid and VitB12 supplementation reduced homocysteine levels and this was found to be statistically significant.Conclusions: Hyperhomocysteinemia is associated with RPL. Vitamin supplementation to those with hyperhomocysteinemia, decreases homocysteine levels.

Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in Hispanic Patients from Colombia.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4056-4056
Author(s):  
Serguei A. Castaneda ◽  
Henry Cardona ◽  
Walter Cardona ◽  
Leonor Alvarez ◽  
Joaquin Gomez ◽  
...  
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Control Group ◽  
Inherited Thrombophilia ◽  
Hispanic Origin ◽  
Apc Resistance ◽  
At Iii ◽  
Hispanic Patients ◽  
Fv Leiden

Abstract Introduction: Several genetic defects of coagulation factors have been implicated as a possible cause of recurrent pregnancy loss in Caucasians. The role of inherited thrombophilia as a risk factor in populations of Hispanic origin affected with this clinical condition is unknown. To our knowledge, this is the first study conducted to evaluate this genetic predisposition in Hispanics. Objective: To assess association between recurrent pregnancy loss and inherited thrombophilias: factor V G1691A (FV Leiden), prothrombin G20210A (FII G20210A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), activated protein C resistance (APC resistance), and deficiencies of antithrombin III (AT-III) and protein C (PC). Patients and methods: This ongoing case-control study investigates a tri-ethnic population of Hispanic origin from Medellin, Colombia. Inherited thrombophilia was studied in 76 recurrent pregnancy loss patients according to Sixth ACCP Consensus Conference on Antithrombotic Therapy (three or more miscarriages, and either second-trimester losses or gestational vascular complications). The control group included 117 healthy women (two or more children, and no more than one miscarriage). Polymorphisms were genotyped by PCR-RFLP. APC resistance and deficiencies of AT-III, and PC were evaluated using commercial kits (IL Test™ APC™ Resistance V, Antithrombin™, and Proclot™). Sample size of 100 patients and 200 controls was determined to have 80% statistical power to discriminate association. Results: The prevalence of any inherited thrombophilia in this patient cohort was 17%, and 25% in controls (OR 1.16, CI 0.6–2.29). No statistically significant differences in any genetic thrombophilia frequency between patients and healthy controls were observed. FV Leiden and FII G20210A were both positive in one patient and one control (OR 1.55, CI 0–57.5, for both thrombophilic defects). In the patient group 13.2% homozygous carriers with MTHFR 677T were found, as compared to 22.2% among controls (OR 0.53, CI 0.22–1.25). The odds ratio for the association between recurrent pregnancy loss and APC resistance was 0.77 (CI 0.32–4.2). The inheritance of AT-III deficiency or PC deficiency was not associated with recurrent pregnancy loss. AT-III deficiency was not detected in patients and was found in only one control. Furthermore, one patient was defined as PC deficiency carrier while none were found in the control group. Conclusion: Our preliminary results found no association between recurrent pregnancy loss and inherited thrombophilia in this population originated by admixture of Amerinds, Europeans, and Africans, such as the American population denominated Hispanic. Base on our current data analysis, we do not expect to find any association even with the planned larger sample size. This suggests that inherited thrombophilia might not play a main role in Hispanic populations affected with this clinical condition. Given these results, appears to be insufficient evidence to include inherited thrombophilia in the initial evaluation of recurrent pregnancy loss in this population group, and possibly Hispanic patients in America. We suggest it is important to look for other, more common, causes of recurrent miscarriage in the evaluation of this group of patients. These data suggest an important ethnic difference between this population and Caucasians.

scholarly journals Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss

2017 ◽  
Vol 12 (1) ◽  
pp. 162-166 ◽  
Author(s):  
Mahmoud Mohamed Elgari ◽  
Nadir Ahmed Ibrahim ◽  
Abdel Rahim Mahmoud Muddathir ◽  
Faris Mergheni Eltoom ◽  
Ibrahim M Ibrahim
Keyword(s):  
Deep Vein Thrombosis ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

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.

scholarly journals Molecular Mechanisms of Recurrent Pregnancy Loss

2020 ◽  
Author(s):  
Bahareh Mazrouei ◽  
Mohammad Mehdi Heidari ◽  
Mehri Khatami ◽  
Maryam Tahmasebi
Keyword(s):  
Growth And Development ◽  
Pregnancy Loss ◽  
Molecular Mechanisms ◽  
Genetic Factors ◽  
Recurrent Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Molecular Abnormalities ◽  
Appropriate Treatment ◽  
Structural Abnormalities ◽  
Recurrent Pregnancy Losses

Introduction: Pregnancy and health is the process in which the egg is fertilized and being able to survive. When pregnancy occurs under some conditions and the fetus is being at risk, it will lead to abortion that occurs involuntarily and spontaneously. Abortions that occur more than two or three times are called recurrent pregnancy loss (RPL). Various etiological factors involved in RPL, including environmental, pathological and genetic factors. The environmental factors that often related to an inappropriate lifestyle, and endanger the pregnancy. The pathological factors are including autoimmune, infectious, endocrine and anatomical factors. The genetic factors are including several structural and chromosomal abnormalities. The majority of chromosomal abnormalities are including trisomy, polyploidy, and monosomy X. The structural abnormalities due to chromosomal cleavage, which may be balanced or unbalanced. However, a large number of these abortions do not have any clear reason, so molecular studies have shown that these types of recurrent pregnancy losses are related to the gene disorders of the mother. The function of these genes shows that they are associated with the process of formation, implantation and maintenance, fetal growth and development, and so on. This review focuses on the genetic and molecular abnormalities that may involve in the occurrence of recurrent pregnancy loss to choose the appropriate treatment for couples who suffer from RPL, based on the type of disorder.

The antigenic binding sites of autoantibodies to factor XII in patients with recurrent pregnancy losses

2008 ◽  
Vol 99 (02) ◽  
pp. 316-323 ◽  
Author(s):  
Yoshimi Fujita ◽  
Hidehiko Matsubayashi ◽  
Shun-ichiro Izumi ◽  
Mikio Mikami ◽  
Akifumi Inomo ◽  
...  
Keyword(s):  
Binding Site ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Platelet Glycoprotein ◽  
Factor Xii ◽  
Binding Studies ◽  
Amino Terminal ◽  
Recurrent Pregnancy Losses ◽  
Direct Binding ◽  
Positive Recurrent

SummaryRecently, numerous studies have suggested an association between factor XII (FXII) deficiency and recurrent pregnancy losses, and between autoantibodies to FXII and recurrent pregnancy losses. Autoantibodies to FXII rather than FXII deficiency may be a risk factor for recurrent pregnancy losses. To know the pathogenesis of autoantibodies to FXII, epitope mapping study was done. Seventeen anti-FXII antibody positive recurrent pregnancy loss patients were chosen for this study. We used synthetic peptides in inhibition and direct binding studies to identify the antigenic binding site of autoantibodies to FXII. Among plasmas from 17 recurrent pregnancy loss patients who were positive for autoantibodies to FXII, 13 patients (76.5%) recognized amino acids 1–30, the amino-terminal heavy chain region that is known as factor XII binding site to platelet glycoprotein Ibα.

scholarly journals Comparison of empirical use of low dose aspirin and enoxaprin in the treatment of unexplained recurrent pregnancy loss

2020 ◽  
Vol 9 (3) ◽  
pp. 1138
Author(s):  
Sunil Kumar Juneja ◽  
Pooja Tandon ◽  
Gagandeep Kaur ◽  
Bakul Kapoor ◽  
Guneet Singh Sidhu
Keyword(s):  
Live Birth ◽  
Pregnancy Loss ◽  
Low Dose ◽  
Recurrent Pregnancy Loss ◽  
Chromosomal Anomalies ◽  
Dose Aspirin ◽  
Low Dose Aspirin ◽  
Uterine Anomalies ◽  
Significant Difference ◽  
Recurrent Pregnancy Losses

Background: Recurrent pregnancy losses have commonly been defined as three or more consecutive spontaneous pregnancy losses. About 1-2% of women suffer from recurrent miscarriages. The cause is multifactorial such as uterine anomalies, endocrine disorders, immunological causes, infections, chromosomal anomalies and maternal autoimmune diseases. In 50-60% of cases recurrent pregnancy losses, the cause remains unclear. Objective of this study was to compare the maternal and fetal outcome in patients with unexplained recurrent pregnancy loss treated with LMWH (Enoxaparin) vs Aspirin during pregnancy.Methods: Women with 3 or more pregnancy losses, aged between 18-40 years, booked for antenatal care and delivery in our hospital between January 2012 and December 2016 were followed till 6 months after delivery.Results: A total number of 146 women were assessed for eligibility. We had 62 women in Group A (aspirin group) and 84 women in Group E (enoxaparin group). Enoxaparin was given to all those ladies who had taken aspirin in previous pregnancies with no live outcome. Good neonatal outcome was observed with Enoxaparin.Conclusions: Live birth rates did not show significant difference between the two study groups. But empirical use of enoxaparin in patients with no live birth who have taken low dose aspirin in previous pregnancy had shown improved results, so enoxaparin should be used empirically as a first line agent in such cases.

Inherited Thrombophilia In Omani Women with Recurrent Pregnancy Loss

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 5124-5124
Author(s):  
Khalil Al Farsi ◽  
Shoaib Al Zadjali ◽  
Karima Al Falahi ◽  
Murtadha K. Al-Khabori ◽  
Anil Pathare ◽  
...  
Keyword(s):  
Research Funding ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Median Number ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Molecular Testing ◽  
Inherited Thrombophilia ◽  
Thrombophilia Testing

Abstract Abstract 5124 Background: Recurrent pregnancy loss (RPL) is a common clinical problem. Inherited thrombophilia has been reported to be associated with RPL by different groups. Methods: We retrospectively analyzed the records of women who had thrombophilia testing for RPL, defined as 2 or more pregnancy losses, between the period of June 2006 and June 2010. The following thrombophilic disorders were included: protein C deficiency (PC), protein S deficiency (PS), anti-thrombin deficiency (AT), activated protein C resistance (APCR) and more recently, as molecular testing became available at our institution, factor V G1691A (FVL), prothrombin G20210A (PTG) and Methyl tetrahydrofolate reductase C677T (MTHRF) mutations. Women were excluded if testing was only done during pregnancy or in the immediate post-partum period. Results: A total of 136 women were identified. Median age was 32 (range: 18–44) with a median number of RPL of 3 (range: 2–11). Median number of first trimester losses was 2 (range 0–11). Two women had only second trimester losses and one had only third trimester losses. PS deficiency was identified in 8 women (5.8%), PC deficiency in 3 (2.2%), AT deficiency in 1 (0.7%) and APCR in 1 (0.7%). Of 30 women who had genetic analysis by PCR, 8 had abnormal results (MTHFR: 4 heterozygous, 1 homozygous; FVL: 2 heterozygous and PTG: 1 heterozygous). We did not find any correlation between the number of RPLs and the finding of a positive thrombophilia screen in the overall group or in the group of women who had molecular testing. Conclusion: Inherited thrombophilia is not as common in our patient population as described in other groups. However, a prospective study with a control group and a full panel of thrombophilia testing is needed to assess the prevalence and significance of such defects in women with RPL. Disclosures: Pathare: Sultan Qaboos University: Employment, Research Funding. Alkindi:Sultan Qaboos University: Employment, Research Funding.

Telomere Length in Idiopathic Recurrent Pregnancy Loss

2021 ◽  
Author(s):  
Taylan Onat ◽  
Melike Demir Çaltekin ◽  
Nihal Inandiklioglu ◽  
Emre Baser ◽  
Demet Aydogan Kirmizi ◽  
...  
Keyword(s):  
Telomere Length ◽  
Base Pair ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Venous Blood ◽  
Biological Aging ◽  
Control Group ◽  
Early Follicular Phase ◽  
Recurrent Pregnancy Losses ◽  
Endocrine Parameters

Abstract Objective Telomere length is used as an indicator of biological aging. It is well known that one of the most remarkable risk factors of recurrent pregnancy losses is advanced maternal age. The objective of this study was to investigate the correlation between idiopathic recurrent pregnancy loss and telomere length. Method The study group included 40 women, while the control group consisted of 41 healthy women whose age and body mass index were matched. A venous blood sample was taken from all participants into EDTA tubes in the early follicular phase, and telomere length was measured through the qPCR technique. Results When the mean TL of the groups was compared, it was determined that TL was significantly shorter among the iRPL group (7763.89±924.58 base pair) compared to the control group (8398.84±1102.95 base pair) (p<0.006). Whereas FSH and E2 were higher in the iRPL group, TAFC was lower (p<0.001). When the correlation between telomere length and endocrine parameters was statistically tested in the iRPL group, a negative correlation was found between FSH and telomere length (r=-0.437; p<0.001). Conclusion Shortened telomere length might play a role in the etiology of iRPL. We are of the opinion that patients with RPL should be screened for the presence of cardiovascular diseases and other chronic diseases, as is the case for POF.

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