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Introduction: Hematological disorders per se represent unusual causes of cerebral ischemia, explaining in young people 4% of strokes. Hematological disorders that induce a thrombotic tendency contribute to overall ischemic stroke risk and may directly cause cerebral ischemia in patients without other risk factors. The frequency of cerebral infarctions caused by prothrombotic states is not known., Development: This review will focus on disorders such as prothrombotic coagulopaties, including resistance to activated protein C and antiphospholipid syndrome as cause of cerebral infarction. Cerebral venous thrombosis and cerebral infarction from arterial origin are the most common form of neurological involvement. Pathophysiological mechanism of stroke in these patients are multiple and can include as in antiphospholipid syndrome embolism from valves abnormalities related to hematological disturbance, as well as thrombosis of extracranial or intracranial vessels., Conclusions: Is clear, however, that prothrombotic states could explains a high percentage of cases of those so called cryptogenic cerebral infarction in young people.

Inferior vena cava thrombosis is infrequent and in 30% of cases, the potential cause is an alteration of the natural anticoagulant protein system. We report a 18 years old male with an inferior vena cava thrombosis that was associated to a protein C deficiency. He was successfully treated with an infusion of intravenous streptokinase during 30 hours and intravenous heparin during 10 days, followed by oral anticoagulation therapy.

Background: Deficiencies in ATIII, PC, and PS are associated with a higher incidence of thromboembolic events. An analysis was made of these three proteins in 239 cases of non-embolic stroke; the incidence of their deficiency and the presence of intersexual variations were evaluated. Two different methods were used to measure PS, functional PS and free PS, comparing the values and the incidence of the deficiency., Results: ATIII, PC, free PS, and functional PS deficiencies were found in 2.93%, 7.5%, 9.52% and 13.72%, respectively. The observed PS values showed statistically significant differences between sexes., Conclusion: There was a higher incidence of PS and PC deficiencies in patients with stroke, which were associated with a poorer prognosis. PS differed between sexes and both methods were valid for its quantitation.

The case of a 50 year-old patient with a cerebral infarct related to a deficit in type II C protein is described. The patient showed no other vascular risk factor and the cardiological study, which included a transthoracic and a transoesophagic echogram ruled out the presence of embologenic cardiopathy. A family study detected the presence of a deficit of C protein in 6 of the 8 sons and in the patient's sister who had a deep vein thrombosis at the age of 54. A hereditary deficiency in C protein was confirmed. We consider it necessary to perform hypercoagulability studies which include the determination of C protein in patients under 55 years of age with cerebral infarcts of unknown cause, especially when there is a family history of thrombosis.

In this work we analyse the information about one group of young patients with cerebrovascular disease, studying the association between haematological pathology and cerebrovascular disease. The objective is to establish a comparison between our results and those previously reported in the medical literature.

Purpose: To assess the incidence of congenital and acquired thrombophilia and to analyse the clinical characteristics of a group of patients with high risk criteria for thrombophilia., Patients and Methods: Two hundred and eighty-five consecutive patients seen at the anticoagulant outpatient clinic of the Oviedo Central Hospital between 1987 and 1993 were evaluated. The patients had to meet one or more of the following: 1) venous thrombosis (VT) under 45 years of age; 2) repeat VT; 3) family history of VT; 4) unusual VT location (mesenteric, brain, etc.). The study was performed 4 to 7 months after the first acute episode and at least one month after suppression of anti-vitamin K treatment. The following test were carried out: blood cell counts, basic coagulation tests (APTT, PT, TT, RT and fibrinogen), lupus-like anticoagulant detection, with and without platelet extract, diluted tissular thromboplastin inhibition test, antibodies, anticardiolipin, liver and kidney functional screen, cholesterol, HDL, triglycerides and glycaemia. The venous occlusion test after 20-minute stasis was used for the global fibrinolysis study. The statistical evaluation was performed with the SPSS programme., Results: Biologic alterations were present in 98 patients (35%), 12% corresponding to congenital thrombophilia and 23% to acquired thrombophilia. The study was normal in 187 patients (65%). Of the patients with congenital thrombophilia, 4.9% had protein C (PC) deficit, 3.4% protein S (PS) deficit, and 2.4% antithrombin III (AT-III) deficit. Of the patients with acquired thrombophilia, 4.5% had antiphospholipid antibodies and 18% had impaired fibrinolysis. Of all the data analysed, the patient history was found of scarce predictive value as to the risk for thrombophilia. Significant differences were found for family history of VT (p < 0.0005) and for the association of more than one criteria for inclusion (p < 0.001)., Conclusions: No conclusions could be drawn from this study regarding the prophylactic attitude in patients with congenital abnormalities or anti-phospholipid antibodies. It is recommended to assess in such patients PC, PS and AT-III activities.

The congenital deficit of protein C has a great diversity of clinical manifestations regarding age. In this paper, we describe the case of a man whose initial symptomatology appeared at the age of 68. Protein C is a vitamin-K dependent plasmatic glycoprotein which has anticoagulant activity through the inactivation of factors Va and VIIIa. The hereditary deficit of protein C is usually presented in a dominant autosomic mode with partial penetration and its prevalence is estimated in each of 200-300 healthy blood donors.

Portal thrombosis is a rare entity classified as idiopathic in 50% of the cases, being protein C deficiency a known cause. We present two cases complicated with portal hypertension diagnosed through sonography and protein C determined though laboratory technics. Complicating esophageal varices sclerosed and follow up at seven months and ten years respectively, satisfactory clinical evolution observed.

Background: Pregnancy, delivery and puerperium are situations which increment the risk of thromboembolic complications in women who are carriers of congenital heterozygotic deficits of type I antithrombin III (ATIII), protein C (PC) or protein S (PS). The aim of this study was to analyze the experience of the authors and propose therapeutic conduct in each case. Furthermore, the spontaneous losses of pregnancy related with these deficits were studied., Methods: Thirty-nine women, seventeen with ATIII deficit, fifteen with PC deficit and four with a deficit of PS and three with a plasminogen (Pg) deficit totalling 79 pregnancies and 51 thrombotic episodes sixteen of which were related with the pregnancy, delivery or puerperium were studied. The antigenic and functional activity of ATIII, PC, PS and Pg were determined., Results: The incidence of thrombosis for the ATIII deficit during pregnancy was 39%, which was greater, of statistical significance (p = 0.046), than the 15% observed during puerperium. In women with a deficit of PC, the incidence of thrombosis was 4.5% during pregnancy and 14% during puerperium with no significant difference between the two situations. The incidence of thrombosis during pregnancy and postpartum in the deficit of ATIII was significantly higher (p < 0.025) than that observed for the deficit of PC. For women with a deficit of PS and Pg the incidence of thrombosis was nul in pregnancy and puerperium., Conclusions: Pregnancy and puerperium are situations which trigger thrombotic phenomena and increase the risk of the same in women with a deficit of antithrombin III and protein C and, to a lesser degree, the deficit of protein S or plasminogen. A strict control of these situations and individualized treatment is required according to the type of deficit, presence of previous thromboembolic history and anticoagulant history at the time of pregnancy. No increase in the risk of loss of pregnancy in any of the deficits studied was observed.

Background: In order to find alternatives for the diagnosis of hereditary protein C (PC) deficiency, we have studied the diagnostic informativity of the restriction fragment length polymorphism (RFLP) MI, located 7 kb upstream of the PC gene and detected with the restriction enzyme MspI., Methods: The RFLP MI has been analysed in 77 individuals belonging to 27 families with congenital PC deficiency, as well as in a control group of 46 healthy donors. The analysis has been performed by PCR amplification and MspI digestion of the polymorphic DNA fragment., Results: The allelic frequencies of the RFLP MI in the population studied are 0.69 for the allele A1, without the MspI restriction site, and 0.31 for the allele A2, with the MspI site. No differences have been found between the control and the PC deficient groups. The informativity of the polymorphism has been calculated to be 33.8%. Consegregation studies between this RFLP and PC deficiency have allowed the determination of the allele associated to the polymorphism in 21 out of the 27 studied families. Furthermore, an asymptomatic PC deficient carrier, with normal PC levels, has been identified., Conclusions: The study of this RFLP in families with hereditary PC deficiency may be useful for the identification of PC deficient carriers as well as for the prenatal diagnosis of the deficiency.

Protein C together with its plasmatic cofactor protein S and antithrombin III probably represent the most important plasmatic inhibitor in coagulation. Protein C deficiency constitutes a high risk factor for venous thrombosis. Cerebral venous thrombosis is a manifestation which is scarcely referred to in protein C deficiency. The case of a 32 year old patient with protein C deficiency is presented. The patient was admitted for an endocraneal hypertension syndrome. CT and MR demonstrated multiple hemorrhagic cerebral infarctions. Arteriography confirmed vertebral venous thrombosis. Only six cases sufficiently documenting cerebral venous thrombosis due to protein C deficiency were found in the literature. In most cases coadjuvant factors exist predisposing thromboembolic disease. The present clinical case demonstrates the importance of considering protein C deficiency in the diagnosis of cerebral venous thrombosis in young adults.

We report the case of a young man with severe pulmonary hypertension caused by multiple thromboembolism subsequent to congenital protein C deficit. During the previous phase to haematological treatment we showed a very poor response to vasodilators evaluated by Doppler-Echocardiography. The etiological diagnosis was confirmed and initialized the anticoagulant treatment. We had observed a significant regression of peak gradient atrioventricular by continuous wave Doppler and a complete clinical normalization.

In this review paper, the salient features of the anticoagulant/fibrinolytic mechanism depending on coagulation protein C, protein S and thrombomodulin are reviewed. Coagulation protein C, activated at the endothelial cell surface in the presence of the complex thrombin/thrombomodulin exerts two anti-thrombotic effects: one anticoagulant dependent on the free protein S and the other pro-fibrinolytic, independent of protein S. Both inherited and acquired deficiencies of protein C and/or protein S lead to a thrombosis-prone state that has to be identified promptly to avoid vaso-occlusive episodes. The experience in Mexico with both the identification and treatment of these deficiencies is reviewed; it is interesting that we have found that patients with autoimmune disorders, mainly systemic lupus erythematosus and primary anti-phospholipid syndrome, have acquired deficiencies of this anticoagulant mechanism that may be related to the thrombogenesis observed in these patients.

The case of an 8-month-old male with heterozygous coagulation protein C deficiency is presented. Sepsis due to Salmonella typhi aggravated the protein C deficiency and resulted in arterial thrombosis of the distal third of the lower right limb. The patient was treated with both heparin and danazol, the levels of functional protein C increasing and the necrotic phenomenon resolving, thus making unnecessary amputation of the limb. The observation is discussed with the evidences of danazol being useful in the treatment of patients with protein C deficiency.