• Title/Summary/Keyword: Thrombophilia

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First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss

  • Han, Sung Hee;Seo, Jung Jae;Kim, Eun Seol;Ryu, Jae Song;Hong, Seong Hyeon;Hwang, Seung Yong
    • Journal of Genetic Medicine
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    • v.16 no.1
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    • pp.23-26
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    • 2019
  • Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

Free flap thrombosis in patients with hypercoagulability: A systematic review

  • Biben, Johannes Albert;Atmodiwirjo, Parintosa
    • Archives of Plastic Surgery
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    • v.46 no.6
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    • pp.572-579
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    • 2019
  • Background Even with satisfactory anastomosis technique and adequate experience of the surgeon, flap loss due to thrombosis can still occur due to the patient's underlying condition. Patients with hypercoagulability due to etiologies such as malignancy, hereditary conditions, and acquired thrombophilia are among those who could benefit from free flap procedures. This review aimed to evaluate the risk of free flap thrombosis in patients with hypercoagulability and to identify the most effective thromboprophylaxis regimen. Methods This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline. The PubMed, Embase, and Cochrane Library databases were explored. Types of free flaps, types of hypercoagulable states, thrombosis prevention protocols, thrombosis complication rates, and flap vitality outcomes were reviewed. Samples from the included studies were pooled to calculate the relative risk of free flap thrombosis complications in patients with hypercoagulability compared to those without hypercoagulability. Results In total, 885 articles underwent title, abstract, and full-text screening. Six articles met the inclusion criteria. The etiologies of hypercoagulability varied. The overall incidence of thrombosis and flap loss in hypercoagulable patients was 13% and 10.3%, respectively. The thrombosis risk was two times higher in hypercoagulable patients (P=0.074) than in controls. Thromboprophylaxis regimens were variable. Heparin was the most commonly used regimen. Conclusions Hypercoagulability did not significantly increase the risk of free flap thrombosis. The most effective thromboprophylaxis regimen could not be determined due to variation in the regimens. Further well-designed studies should be conducted to confirm this finding.

Clinical Consideration of Obese Infertile Women (비만 불임여성에 대한 임상적 고찰)

  • Nam, Yoon-Sung;Jeong, Chang-Jin;Kim, Nam-Keun;Yoon, Tae-Ki;Cha, Kwang-Yul
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.3
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    • pp.209-214
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    • 2002
  • Objective : To analyze the clinical characteristics of obese infertile women. Material and Method: Height, weight, body mass index, menstrual pattern, glucose, insulin, glucose/insulin ratio, dehydroepiandrosterone sulfate (DHEA-S), testosterone, free testosterone and plasminogen activator inhibitor (PAI-1) of 15 obese infertile women were tested. Results: Of 15 obese infertile women, the number of diabetes mellitus, hyperinsulinemia, and insulin resistance was 2 (13%), 2 (13%), 2 (13%), respectively. The incidence of increased DHEA-S, testosterone, and free testosterone was 7 (47%), 1 (7%), 6 (40%), respectively. Notably, all patients showed increased PAI-1. Conclusions: Obesity is associated with infertility as well as many kinds of health problems. Obesity is closely related to insulin resistance and it also causes hyperandrogenism. Increased PAI-1 is one of the important causes of thrombophilia. Consequently, in the workup of obese infertile patient, many aspects of health problems should be considered.

A Case of Factor XII Deficiency Which was Found in Recurrent Spontaneous Abortion (반복자연유산 환자에서 발견된 응고인자 12 부족증 1례)

  • Nam, Y.S;Kim, I.H.;Yoon, T.K.;Lee, C.N.;Cha, K.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.2
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    • pp.271-274
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    • 1999
  • Activated factor XII (FXIIc: Hageman factor) is a central component of the contact activation system of blood coagulation, fibrinolysis, and kinin formation. Although patients deficient in FXIIc (up to 50% of normal) do not show increased bleeding tendency, thrombotic complications were reported in 8% to 10% among these patients. The reduced generation of bradykinin resulting in diminished release of tissue plasminogen activator is proposed as a cause of thrombosis in factor XII (FXII)-deficient patients. Similarly, in patients with elevated levels of circulating antiphospholipid antibodies, hemostasis may be impaired resulting in excessive thrombophilia. Both vascular and placental thromboses because of antiphospholipid antibodies or FXIIc deficiency have been reported to be associated with recurrent fetal loss. We have experienced a case of factor XII deficiency in woman with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

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Hereditary protein S deficiency presenting acute pulmonary embolism

  • Kim, Jiwan;Kim, Sung Hea;Jung, Sang Man;Park, Sooyoun;Yu, HyungMin;An, Sanghee;Kang, Seonghui;Kim, Hyun-Joong
    • Journal of Yeungnam Medical Science
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    • v.31 no.1
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    • pp.52-55
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    • 2014
  • Protein S deficiency is one of the several risk factors for thrombophilia and can cause blood clotting disorders such as deep vein thrombosis and pulmonary embolism. A 54-year-old man was admitted with the complaint of dyspnea and was diagnosed with pulmonary embolism. The patient had very low level of free protein S, total protein S antigen, and protein S activity (type I protein S deficiency). In history taking, we found that his mother, 78 year old, had a history of same disease 10 years ago, and confirmed the pronounced low level of protein S. The patient's son also had very low level of protein S, however there had not been any history of pulmonary embolism yet. This case study suggests that asymptomatic persons with a family history of protein S deficiency and pulmonary embolism should be checked regularly for early detection of the disease, as protein S deficiency can be suspected.

A Case of Antiphospholipid Syndrome Associated with Protein C Deficiency (C단백질 부족증과 관련된 항인지질 증후군 1례)

  • Nam, Y.S.;Han, S.Y.;Choi, D.H.;Yoon, T.K.;Cha, K.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.1
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    • pp.123-126
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    • 1999
  • A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

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Multiple Hypercoagulability Disorders at Presentation of Non-Small-Cell Lung Cancer

  • Lee, Jeong Min;Lim, Jun Hyeok;Kim, Jung-Soo;Park, Ji Sun;Memon, Azra;Lee, Seul-Ki;Nam, Hae-Seong;Cho, Jae-Hwa;Kwak, Seung-Min;Lee, Hong Lyeol;Kim, Hyun-Jung;Hong, Geun-Jeong;Ryu, Jeong-Seon
    • Tuberculosis and Respiratory Diseases
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    • v.77 no.1
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    • pp.34-37
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    • 2014
  • Hypercoagulability disorders are commonly encountered in clinical situations in patients with a variety of cancers. However, several hypercoagulability disorders presenting as first symptoms or signs in cancer patients have rarely been reported. We herein described a case of a woman with adenocarcinoma of the lung presenting with deep vein thrombosis, nonbacterial thrombotic endocarditis, recurrent cerebral embolic infarction, and heart failure.

Systemic Review : The Study on Ovarian hyperstimulation syndrome(OHSS) (Pub Med에서 검색된 난소 과자극 증후군에 대한 최신 연구 고찰)

  • Jung, Minyung;Sohn, Youngjoo
    • The Journal of Korean Obstetrics and Gynecology
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    • v.18 no.1
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    • pp.192-206
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    • 2005
  • Objective : To know about ovarian hyperstimulation syndrome pathophysiology, risk factors and clinical features and to research the trend of the study related to OHSS. Methods : We referred a PubMed site by using searching word of "ovarian hyperstimulation syndrome"(Limits: 1 Year, only items with abstracts, Human). Results : 28 journals with 49 papers were searched. Conclusion 1. The study of OHSS subjects on pathophysiology, prevention and medical treatment. 2. As OHSS is an exaggerated response to ovulation induction therapy, it's emphasized that aspect of prevention OHSS. 3. Preventing OHSS are the following. The first is to give a GnRH agonist or antagonist in substitute for hCG. The second is to screen out prevalence of thrombophilia. The third is to monitor $E_2$ levels. The forth is to aspirate of Mediculous follicle. The fifth is cryopreservation of all embryos. The sixth is that administration of albumin for treatment of OHSS. But, it's not useful to administration of albumin for prevention of OHSS. 4. There's no therapy of OHSS. But, there's only symptomatic treatment of OHSS.

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Association Analysis of Tissue Factor Pathway Inhibitor Polymorphisms and Haplotypes with Osteonecrosis of the Femoral Head in the Korean Population

  • Dai, Xue Lian;Hong, Jung Min;Oh, Bermseok;Cho, Yoon Shin;Lee, Jong-Young;Park, Eui Kyun;Kim, Chang Yoon;Kim, Shin-Yoon;Kim, Tae-Ho
    • Molecules and Cells
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    • v.26 no.5
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    • pp.490-495
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    • 2008
  • Thrombophilia and hypofibrinolysis have been implicated in the pathogenesis of osteonecrosis of the femoral head (ONFH). Tissue factor pathway inhibitor (TFPI), a multivalent protease inhibitor, is an important regulator of the tissue factor-mediated blood coagulation pathway. Mutations of the TFPI gene can increase the risk of thrombin generation and venous thrombosis. The aim of this study was to evaluate the association of TFPI gene polymorphisms with ONFH. All exons and their boundaries of the TFPI gene, including the -1,500 bp promoter region, were directly sequenced in 24 Korean individuals and four sequence variants were identified. These four polymorphisms [-51096 G > A (C-399T), -50984A > G (T-287C), + 24999A > G (Int7 -33T > C), + 37339T > A] were genotyped in 474 ONFH patients and 349 control subjects. The association of genotyped SNPs with ONFH was not found in the present study. The haplotype AAAT of TFPI was significantly associated with total, alcohol-induced, and idiopathic ONFH (p = 0.003, 0.021, and 0.007, respectively), and the haplotype GAAT was significantly associated with total and alcohol ONFH (p = 0.022 and 0.009, respectively). In addition, a new SNP + 37339 T > A in the 3'-UTR of the TFPI gene, was found in the Korean population. To date, this study is the first to show that haplotypes of the TFPI gene are associated with an increased susceptibility for ONFH. The results suggest that genetic variations in TFPI may play an important role in the pathogenesis and risk factors of ONFH.

Acute Pulmonary Embolism: Clinical Characteristics and Outcomes in a University Teaching Hospital (한 대학병원에서 급성 폐색전증으로 진단된 환자들의 임상적 특성 및 예후)

  • Chae, Jin-Nyeong;Choi, Won-Il;Park, Jie-Hae;Rho, Byung-Hak;Kim, Jae-Bum
    • Tuberculosis and Respiratory Diseases
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    • v.68 no.3
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    • pp.140-145
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    • 2010
  • Background: Pulmonary embolism (PE) is a common clinical problem in the West that is associated with substantial morbidity and mortality. The diagnostic modality has been changed since 2001. This study retrospectively reviewed the PE mortality with the aim of identifying the risk factors associated with mortality since the multidetector computed tomography (MDCT) was introduced. Methods: We analyzed 105 patients with acute PE proven by multidetector CT or ventilation perfusion scan. The primary outcome measure was the all-cause mortality at 3 months. The prognostic effect of the baseline factors on survival was assessed by multivariate analysis. Results: The main risk factors were prolonged immobilization, stroke, cancer and obesity. Forty nine percent of patients had 3 or more risk factors. The overall mortality at 3 months was 18.1%. Multivariate analysis revealed low diastolic blood pressure and the existence of cancer to be independent factors significantly associated with mortality. Forty two PE patients were examined for the coagulation inhibitors. Four of these patients had a protein C deficiency (9.5%), and 11 had a protein S deficiency (26%). Conclusion: PE is an important clinical problem with a high mortality rate. Close monitoring may be necessary in patients with the risk factors.