Perinatal complications related to inherited thrombophilia: review of evidence in different regions of the world

Dugalić, Stefan; Petronijević, Miloš; Stefanović, Aleksandar; Stefanović, Katarina; Perović, Milan; Pantić, Igor; Petronijević, Svetlana Vrzić; Stanisavljević, Dejana; Zaric, Milica

doi:10.1080/14767058.2019.1669017

Cited by 13 publications

(16 citation statements)

References 38 publications

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“…Interestingly, in a study for ethnic‐specific reference ranges of thrombophilic markers, protein C and protein S levels were significantly lower in black subjects than a white population, and another study which deals with some Asians and Middle easterners also showed significant differences in the prevalence of each inherited thrombophilia between races 47,74 …”

Section: Factors Affect the Levels Of Inherited Thrombophilia Markersmentioning

confidence: 97%

“…Other hereditary factors such as factor V H1299R (R2), factor V Y1702C, factor XIII V34L, β‐fibrinogen‐455G > A, 5G, HPA1 a/b (L33P), methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and PAI‐1 4G/5G were also investigated about its association with obstetric complications and RFs 39–46 . The prevalence of these markers differs in ethnics and geographic regions 47 . Compared to Asians, Caucasians had higher incidence of mutations of FVL and PT, but lower MTHFR mutation and protein S deficiency (Table 1).…”

Section: Inherited Thrombophilia and Rfsmentioning

confidence: 99%

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Inherited thrombophilia and anticoagulant therapy for women with reproductive failure

Han

Lee

2020

American J Rep Immunol

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Reproductive failure (RF) is the inability to conceive or to carry a pregnancy to term, and its prevalence is not negligible. Pregnancy is a prothrombotic condition, which can be abnormally exaggerated in women with thrombophilia. Antiphospholipid syndrome is a cause of RF and effectively managed with heparin and aspirin. However, there are yet insufficient data in patients with RF and inherited thrombophilia. This review focuses on the significance of inherited thrombophilia and RF and the role of anticoagulants in pregnancy outcomes. A few randomized case‐control studies have investigated the effect of anticoagulation in RF with thrombophilia, and the results are yet debatable. Some inherited thrombophilia including mutations of factor V Leiden, prothrombin, and methylenetetrahydrofolate reductase and protein S deficiency are associated with RF and/or late pregnancy complications. There are several implications which influence the diagnosis and treatment. First, there is a lack of studies revealing appropriate thrombophilia markers and its cutoff values for RF specifically. Second, some thrombophilia markers change with sex and age. Lastly, the study designs of previous studies are heterogeneous in selecting the thrombophilia markers and drugs. Further studies to find adequate thrombophilia markers of RF are warranted and eventually elucidate the subgroups beneficial to anticoagulation treatment.

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Section: Factors Affect the Levels Of Inherited Thrombophilia Markersmentioning

confidence: 97%

Section: Inherited Thrombophilia and Rfsmentioning

confidence: 99%

Inherited thrombophilia and anticoagulant therapy for women with reproductive failure

Han

Lee

2020

American J Rep Immunol

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“…It is possible that the lack of sustained recommendations is due to relative rareness of the disease. Some studies use an integrative approach to accumulate clinical [17] and genetic data. Gradually, new recommendations appear for individual genetic diseases (for example, for patients with channelopathies, Beckwith-Wiedemann syndrome, etc.).…”

Section: Discussionmentioning

confidence: 99%

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

Polyak

Zaklyazminskaya

2020

BMC Med Genet

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Background: Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000-3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the serpin family C member 1 gene (SERPINC1) can lead to Quantitative (type I) and Qualitative (type II) types of antithrombin deficiency. We describe a new genetic variant in the SERPINC1 gene and our approach to variant interpretation. Case presentation: We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis. The antithrombin level in our patient was low, 44-48% (AT deficiency type I). A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister. We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function. In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible. Conclusion: The proband was provided with appropriate genetic counseling and referred to a hematologist. Based on all the evidence we classify the p.W221S variant as variant of unknown clinical significance. In this paper we discuss some aspects of genetic counseling, variant interpretation and thromboembolic prophilaxis.

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“…In addition, there are variations regarding a certain type of thrombophilia between different regions. Screening for the diagnosis of thrombophilia is recommended for women with previous adverse pregnancy outcomes, due to the negative consequences that thrombophilia can have on the pregnancy [6].…”

Section: Thrombophilia In Pregnancymentioning

confidence: 99%

Coagulation challenges in pregnancy: from thrombophilia involvement and management to the utility of thrombin generation monitoring

Mihăilă

2020

Clin. Exp. Obstet. Gynecol.

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Despite numerous studies, there is no general agreement on an ideal biomarker for estimating thrombotic risk in pregnant women. However, it is accepted that the analysis of thrombin generation assesses the coagulation state more accurately compared to the classical tests used to investigate it. Increasing evidence has found that thrombin generation is correlated with overall plasma hypercoagulability, which is involved in the occurrence of major obstetrical syndromes, including preeclampsia, intrauterine growth restriction or recurrent abortions. It is difficult to investigate the thrombophilic mutations which, once discovered, are not able to quantify the thrombotic risk. The standardization of thrombin generation assay could allow a quantification of the individual thrombotic risk, which has a high variability, and would facilitate multicenter studies to establish the utility of thrombin generation monitoring for the prophylactic anticoagulant treatment in order to reduce pregnancy-related complications.

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Perinatal complications related to inherited thrombophilia: review of evidence in different regions of the world

Cited by 13 publications

References 38 publications

Inherited thrombophilia and anticoagulant therapy for women with reproductive failure

Inherited thrombophilia and anticoagulant therapy for women with reproductive failure

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

Coagulation challenges in pregnancy: from thrombophilia involvement and management to the utility of thrombin generation monitoring

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