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PubMed2002

Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report.

CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.

Adult↗
PubMed1993

Hypercoagulable states.

PURPOSE: To describe the major pathophysiologic mechanisms underlying inherited and secondary hypercoagulable states and to evaluate the frequency, natural history, diagnosis, and management of the various clinical disorders. DATA SOURCES AND STUDY SELECTION: Relevant clinical literature obtained from bibliographies in hematology textbooks and from computerized indexes was reviewed. A hypothesis was formed based on this literature review and on recent developments from a number of experimental studies. DATA SYNTHESIS: Hypercoagulable states include various inherited as well as acquired clinical disorders characterized by an increased risk for thromboembolism. Primary hypercoagulable states include relatively rare inherited conditions that lead to disordered endothelial cell thromboregulation. These conditions include decreased thrombomodulin-dependent activation of activated protein C, impaired heparin binding of antithrombin III, or down-regulation of membrane-associated plasmin generation. The major, inherited, inhibitor disease states include antithrombin III deficiency, protein C deficiency, and protein S deficiency and should be considered in patients who have recurrent, familial, or juvenile deep-vein thrombosis or occlusion in an unusual location such as a mesenteric, brachial, or cerebral vessel. Secondary hypercoagulable states may be seen in many heterogeneous disorders. In many of these conditions, endothelial activation by cytokines leads to loss of normal vessel-wall anticoagulant surface functions with conversion to a proinflammatory thrombogenic phenotype. Important clinical syndromes associated with substantial thromboembolic events include the antiphospholipid syndrome, heparin-induced thrombopathy, the myeloproliferative syndromes, and cancer. CONCLUSIONS: Physiologic thromboregulation occurs at the vessel-wall surface. Quantitative and qualitative deficiencies of normal, steady-state endothelial anticoagulant activities are associated with primary hypercoagulable states. Activated endothelial cell surfaces express a thrombogenic phenotype and contribute to secondary or acquired hypercoagulability.

Blood Coagulation Disorders↗
PubMed2000

[Inherited thrombophilia and pregnancy].

Inherited thrombophilia include deficiences of antithrombin III, protein C and protein S, and the factor V Leiden mutation, the prothrombin gene variant, and homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR). The incidence of thromboembolism events during pregnancy and postpartum period among women with thrombophilia is not well known and depends on the prethrombotic state resulting from the interaction of the underlying thrombophilic defect(s), history of congenital thrombophilia, and additional risk factors. In that way, many patients with congenital thrombophilia will require antenatal thromboprophylaxis, the timing of which will depend on the patient's history and thrombophilic disorders. Low molecular weight heparin appeared to be a safe alternative to unfractionated heparin for both the fetus and the mother during the pregnancy. Case-control studies have recently demonstrated that serious obstetrical complications i. e severe preeclampsia, abruptio placentae, intrauterine growth restriction, and stillbirth were frequently associated with inherited thrombophilia. Controlled trials are now urgently needed to determine the possible potential benefits of anticoagulant therapy in pregnancy outcome. Finally, there is no evidence to support routine screening for congenital thrombophilia during pregnancy.

Antithrombin III Deficiency↗
PubMed2000

[Proposed protocol for the study of cerebrovascular disease in childhood].

AIM: The etiology of cerebrovascular disease in the paediatric population, remains unknown in up to 40% of the cases ("idiopathic"), but recent advances could improve this percentage. We devised a comprehensive study protocol for such investigation aimed at the identification of potentially modifiable risk factors for paediatric stroke. PATIENTS AND METHODS: From the 141 patients initially registered in our data base for stroke population (from January 1984 until December 1995), we invited all the patients with idiopathic cerebrovascular disease to complete the study protocol. New cases appeared from January 1996 until July 1999 were also included. RESULTS: A total of 68 cases were identified. We found an etiology in 38% and in 76% of the cases we found at least one risk factor for stroke. Mild hyperhomocysteinemia was the most frequent risk factor identified (36% of patients versus 5% of controls), one of them an infant with fatal haemorrhagic infarct with classic homocystinuria. 31% of the patients had thrombotic risk factors (protein S, protein C, antithrombine III deficiency, factor V Leiden, etc). 17.6% had unspecific febrile illness at the time of the cerebral infarction and 11.6% had minor head injuries before the stroke. CONCLUSIONS: The use of the protocol improves the identification of potentially modifiable risk factors for stroke in childhood and may serve as a practical guideline for clinicians. The stroke protocol is as important as management strategies for acute stroke or for recurrence prevention, currently under consideration in the adult population.

Adolescent↗
PubMedDate not supplied

[Bilateral stenosis of the innominate veins in oncological patient].

Oncologic diseases frequently need a central venous catheterization to improve pharmacological administration safety and patient's comfort. We report a case of a woman affected by acute myelocytic leukemia with a bilateral stenosis of the innominate veins, likely of thrombotic nature, diagnosed during central venous catheterization. These events, as that occurred to our patient, are usually caused by hypercoagulability inducted by oncologic diseases, sepsis, antithrombin III deficiency, catheters materials and repeated catheterizations. Although the treatment, based on local thrombolysis, systemic heparinization, and surgery to repair venous obstruction, is effective, the prevention of such events is fundamental. It can be achieved with catheters of particular characteristics and appropriate management techniques. Finally it is underlined that in oncology patients, before catheterization, especially when the objective examination is negative, radiological methodologies and in particular ultrasonography are an important aid to establish the presence or absence of thrombosis in internal jugular, subclavian and innominate veins.

Adult↗
PubMed2002

[Traveler's thrombosis. Who is at risk--how to prevent it?].

"Traveller's thrombosis" is defined as a deep venous thrombosis of the leg that develops no later than two weeks following a journey lasting at least five hours. According to the WHO, traveller's thrombosis affects in particular persons with additional risk factors. These include obesity, age, such prior diseases as malignant tumours, previous surgery, use of oral contraceptives, and such inborn risk factors as antithrombin III deficiency and homozygous factor V Leiden mutation. In such patients, the (air) journey is merely the triggering event. Prophylactic measures should include counseling of high-risk patients. Depending on the risk profile, recommended general measures are compression and low-molecular-weight heparin. The much discussed use of acetylsalicylic acid, in contrast, is no certain prophylaxis.

Adult↗
PubMed2002

[Acquired and inherited hypercoagulability among patients with cerebral venous thrombosis].

BACKGROUND: Cerebral venous thrombosis (CVT) is considered to be a relative unusual pathology, probably underdiagnosed. Many acquired and inherited hypercoagulability states (HS) have been described as cause of CVT. OBJECTIVE: [corrected] We evaluated the incidence of acquired and inherited thrombophilic risk factors in a population of CVT patients. METHODS: Hypercoagulability studies were to carried out for patients suffering from radiologically confirmed CVT during a 3 year period (1998-2000). Prothrombin time, aPTT, protein C, protein S and antithrombin III activities, screening and confirmatory tests for lupus anticoagulant (LA), and activated protein C resistance (APCR) were tested. Genetic tests for G1691A factor V (Factor V Leiden), G20210A prothrombin and C677T methylentetrahidrofolate reductase (MTHFR) were performed. Computer database was used for descriptive statistics. RESULTS: 16 patients with CVT (M/F, 6/10) were screened for inherited and acquired coagulation disorders. Mean age of 23.66 years with standard desviation of 19.74 years. Two older patients had antecedents of thrombosis (ischemic stroke and deep-vein thrombosis in leg). We found 1 heterocygosis factor V Leiden associated to LA, 2 heterocygosis G20210A prothrombin (one associated to LA), 2 homocygosis C677T MTHFR, 1 hereditary antithrombin III deficiency and 4 LA. COMMENTS: Although this is a small series, we found a high incidence of hereditary (37.5%) and acquired (37.5%) thrombophilia in patients with CVT.

Adolescent↗
PubMed2003

[Testicular infarction without torsion in cryptorchism].

Testicular infarction without torsion of the spermatic cord is a rare lesion, generally idiopathic and spontaneous. It may be exceptionally associated with certain risk factors (vasculitis, cholesterol emboli, malakoplakia, protein S or antithrombin III deficiency, etc.). It often simulates testicular tumour, leading to orchidectomy, which can be avoided, particularly in the case of segmental infarction, by applying conservative treatment. The authors report an original case of infarction of an inguinal ectopic testis without torsion. No cause was identified. In the light of this case and a review of the literature, the authors discuss the various aspects of this clinical entity.

Adult↗
PubMed1992

Inherited hypercoagulable states: questions and controversies.

Inherited hypercoagulable states such as protein C, protein S, and antithrombin III deficiencies account for 15% to 20% of recurrent thromboembolic episodes. A common risk profile is associated with these disorders and guides the use of laboratory screening. The use of anticoagulants in inherited hypercoagulable states varies with a patient's personal and familial history of thrombosis. Special consideration is given to the need for anticoagulants perioperatively and during pregnancy.

Blood Coagulation Disorders↗
PubMed2005

Cardiopulmonary bypass in patients with pre-existing coagulopathy.

Patients with pre-existing coagulopathies who undergo surgical interventions are at increased risk for bleeding complications. This risk is especially true in cardiac surgical procedures with cardiopulmonary bypass (CPB) because of the necessity for heparinization and the use of the extracorporeal circuits, which have destructive effects on most of the blood components. In this review, cases of cardiac surgeries in patients with certain pre-existing coagulopathies are summarized, which could shed a light on future managements of such patients undergoing cardiac procedures with CPB. Pre-existing coagulopathies include antithrombin III deficiency, heparin-induced thrombocytopenia, cancer, factor XII deficiency, hemophilia, idiopathic thrombocytopenic purpura, protein S deficiency, and drug-induced platelet inhibition. In summary, pre-existing coagulopathy in patients undergoing open-heart surgeries, if not recognized and appropriately managed, can cause serious complications. Management of patients undergoing cardiac procedures should include a routine coagulation work-up and a thorough past medical history examination. If any of the foregoing is abnormal, further evaluation is warranted. Proper diagnosis and management of the pre-existing coagulopathy disorders is of crucial importance to the surgical outcome and long-term morbidity.

Blood Coagulation Disorders↗
PubMed1991

[Molecular basis of thrombosis].

Tremendous progress have been performed during the last 25 years in thrombosis. Thrombotic disease can result either from increased deposition or decreased dissolution of fibrin. Since the first observation of a familial antithrombin III deficiency, numerous inherited defects of antithrombotin III, protein C, protein S, heparin cofactor II and plasminogen have been described and were assumed to be responsible of a thrombophilic state. However a disparity in the clinical expression of heterozygous deficiency in coagulation inhibitors or molecular abnormalities of coagulation does exist. On one hand, the prevalence of such molecular diseases is not yet perfectly known and on the other hand, contributory factors (acquired environmental insults or other genetic abnormalities) could play a role in individuals already predisposed to thrombosis. The molecular genetics of deficiencies is going to help us to establish specific gene lesions and thromboembolic history relationships. The analysis of structural or regulatory mutations in the genes of the different coagulation inhibitors, of the molecules of the fibrinolytic system, and of the fibrinogen molecule will greatly increase our knowledge of the molecular basis of thrombosis. The influence of the genetic polymorphism of these molecules on the risk of thrombosis should be studied. Finally, cellular aspects of thrombosis including the role of blood cells and endothelial cells will bring lot of informations on the comprehension of thrombotic diseases.

Blood Cells↗
PubMed1991

[Neonatal dural sinus thrombosis].

Neonatal dural sinus thrombosis is a relatively unknown disease. We recently diagnosed two newborn patients with dural sinus thrombosis. Both patients had associated conditions known to predispose to dural sinus thrombosis. One patient had severe perinatal asphyxia, and the other patient had a deficiency of antithrombin III. Both patients had severe neonatal seizures. The literature on some aspects of this entity is discussed. It is concluded that dural sinus thrombosis may represent an important and underrecognized cause of neonatal seizures.

Antithrombin III Deficiency↗
PubMed1991

Liver transplantation for Budd-Chiari syndrome, 1976-1990.

Between November 1976 and May 1990, twenty-six patients with Budd-Chiari syndrome underwent 28 liver transplants in the Cambridge-Kings College Hospital program. Twelve patients were male, average age 36.6 (range 19-54) and fourteen were female, average age 26 (range 10-47). Possible aetiological factors were identified in 13 cases; polycythaemia rubra vera (4), megakaryocytosis (2), antithrombin III deficiency (1), trauma (1), pregnancy (1), oral contraceptive pill (4). Because of the high incidence of thrombotic complications a protocol of early anticoagulation was introduced early in the series commencing with subcutaneous heparin and progressing to formal full anticoagulation with heparin and then long term anticoagulation with warfarin. Twelve patients have died giving one, three and five year actuarial survival figures of 69.2%, 69.2% and 49.7% respectively, there are currently six patients alive beyond five years. Orthotopic liver grafting in Budd-Chiari syndrome and subsequent anticoagulant thus represents a major treatment option with good long term survival and is the optimal treatment for patients with end stage liver disease.

Adult↗
PubMed1990

[Thrombotic and hemostatic problems in pregnancy and labor and their significance for the fetus and newborn infant].

The following problems are considered: Thrombosis: Safe diagnosis with phlebographic verification is recommended. Heparin has been an established treatment with the great advantage that it does not enter the fetal blood stream. In selected cases surgery or thrombolytic therapy has to be considered. Owing to the high risk of recurrence, prophylactic treatment with Heparin is required throughout pregnancy. Coumarol derivatives traverse the placental membrane to the foetus and have to be avoided because of a risk for teratogenetic injury and intracranial hemorrhage in the foetus. During the puerperium, warfarin might be given because its concentration in breastmilk is low. However, administration of vitamin K1 is recommended to prematures. Attention should be given to the side-effects of Heparin i.e. thrombocytopenia and osteoporosis. The possibility of antithrombin III deficiency should not be overlooked. In such cases it is also risk of thrombosis in the newborn. Premature separation of placenta: In most cases of abruptio placenta immediate delivery by caesarean section is necessary. In cases with partial separation of placenta and immature foetus, treatment with the fibrinolytic inhibitor tranexamic acid (Cyklokapron) has proved useful to prolong pregnancy with maturation of the foetus. Thrombocytopenia: Severe hemorrhage seldom occurs above a level of 50 x 10(9)/l. Treatment with Prednisolon has proved to be of great value. The risk of the child having thrombocytopenia is about 50%. Intraventricular bleedings: Such bleedings mainly occur in prematures. Preliminary results have shown decreased concentrations of specific plasminogen activator inhibitors.

Abnormalities, Drug-Induced↗
PubMed1986

[Status of fibrinolysis in systemic lupus erythematosus].

In patients with systemic lupus erythematosus (SLE) both a haemorrhagic diathesis and a tendency to thrombosis of the venous and arterial vessels can be observed. In the course of the disease, thrombosis of the leg or pelvic veins developed in 20 per cent of 188 patients. The levels of alpha 2-plasmin inhibitor, plasminogen, fibronectin and of factor VIII complex were increased in patients with SLE compared with a control group. Fifty per cent of the patients showed no increase in fibrinolytic activity after venous occlusion measured with the fibrin plate method. This suggests a reduced fibrinolytic capacity in SLE probably caused by alteration of the endothelial cells through immune complex vasculitis. In addition, the lupus anticoagulant and an acquired antithrombin III deficiency in nephrotic syndrome in SLE are to be considered thrombophilic mechanisms. In the individual case there is an overlapping of hyper- and hypocoagulability.

Adult↗