Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 22-year-old obese woman with severe protein S deficiency, probably genetic in nature, associated with recurrent venous thrombosis. Protein S deficiency is a rather rare disease: it may be an inherited, either homozygous (purpura fulminans at neonatal age), heterozygous, or acquired disorder. The thrombophilic state may be manifested as deep vein thrombosis or thrombophlebitis of the superficial veins with a high risk of pulmonary embolism in the young, and it is often exacerbated by pregnancy. In our case, the presenting event, bilateral deep venous (iliac-femoral) thrombosis complicated by disseminated intravascular coagulation, had occurred when the patient was 13 years old. We started long-term therapy with oral coagulants, i.e. warfarin even if the latter may cause skin necrosis ("warfarin dermatitis") in some patients with protein S deficiency. The clinician must consider protein S deficiency in cases of recurrent thrombosis, particularly in young patients: the importance of early implementation of long-term preventive therapy should not be underestimated.
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PMID:[Protein S deficiency and thrombophilia: presentation of a clinical case and review of the literature]. 794 92

Protein C and protein S deficiencies increase the risk of venous thrombosis and pulmonary embolism, but their role in arterial thrombosis or embolism is controversial. We describe cerebral ischemia in two young women in a family with inherited deficiencies of both proteins C and S and provide evidence that a combined deficiency of proteins C and S may be a high risk factor for ischemic stroke in young adults.
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PMID:Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. 803 22

This study of 49 patients with spontaneous venous and arterial thrombosis identified 27 with hypercoagulable states: 13 had only venous thrombosis (VT), six had episodes of VT followed by arterial thrombosis (AT) and eight had AT only. All 27 patients were less than 42 years of age; 22 had specific natural anticoagulant or fibrinolytic deficiencies: antithrombin III (nine patients), protein C (eight patients), protein S (three patients), heparin cofactor II (two patients), tissue plasminogen activator release (one patient) and mixed antithrombin III and protein S (one patient). The remaining five patients had recurrent thrombotic events associated with resistance to heparin anticoagulation, but no established laboratory diagnosis. Clotting complications included recurrent VT, pulmonary embolism, multiple failed arterial procedures and lower extremity amputation. The remaining 22 patients (mean age of 53 years, range of 46 to 63 years), 12 with VT and ten with AT, did not have laboratory evidence of hypercoagulability and none had recurrent vascular occlusions. All these patients were successfully treated by conventional therapy without any additional thrombotic events during the follow-up period. Young adults with spontaneous thrombotic events should be screened for possible hypercoagulable states. Additionally, these young patients need further evaluation and treatment of cardiovascular risk factors. Those with premature atherosclerosis have an especially poor prognosis despite surgical intervention and anticoagulant therapy.
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PMID:Hypercoagulable states as an evolving risk for spontaneous venous and arterial thrombosis. 792 7

Protein S deficiency is an autosomal-dominant inherited disorder of coagulation associated with spontaneous and recurrent venous thrombosis. Approximately 5% of patients with deep venous thrombosis of the lower extremities who are less than 45 years old have a deficiency of protein S. Patients frequently have spontaneous and recurrent deep venous thrombosis and pulmonary embolism during young adulthood. Thrombosis occurs less commonly in the splanchnic and cerebral veins. Arterial thrombosis is rare but is seen in the cerebral circulation. Radiologists should include protein S deficiency in the differential diagnosis of unexplained thrombosis in young patients. This pictorial essay illustrates the range of imaging findings encountered in patients with this disorder.
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PMID:Protein S deficiency: imaging findings. 824 43

Protein S deficiency is uncommon, may cause recurrent thrombosis, and may complicate pregnancy. A patient with protein S deficiency presented with a stillbirth followed by postpartum pulmonary embolism. She then had a successful pregnancy managed by anticoagulation and close fetal monitoring.
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PMID:Protein S deficiency in pregnancy: a case report. 842 Mar 17

Pregnancy and oral contraceptives (OCs) reduce the levels of the natural anticoagulant protein S and about 50% and 20%. respectively. Original work on the link between OCs and development of deep vein thrombosis and pulmonary embolism do not necessarily confirm an association, today since it included cohort studies of women using high estrogen OCs. Also, physicians tended to actively diagnose thrombophlebitis in women they knew were using OCs. Objective diagnostic measures, e.g., venography, were not used in the cohort studies. Decreased estrogen content of current OCs and a case control study design show the likelihood of thrombotic complications of OS use has decreased significantly. Women who have experienced an episode of venous thrombosis and are not on oral anticoagulation therapy should not use OCs, because as many of 30% experience a second episode. Women with a strong family history of thromboembolism and those with antiphospholipid antibodies who have experienced a thrombotic event should also not use OCs. Current or past use of low estrogen Ocs does not significantly increase the risk of myocardial infarction, but smoking does. Physicians doe not know, however, whether women who use an OC with at the most 30 mcg estrogen and who smoke are at greater risk than those who smoke but do not use OCs. Just one study suggests a possible association between OC use and mitral valve prolapse leading to a cerebrovascular accident. The likelihood of developing calf vein clots in women who use low-dose OCs appears to be reduced, if they use sequential compression stockings and subcutaneous low molecular weight heparin following surgery. Since OCs decrease the chance of serious bleeding during ovulation and of heavy menstrual flow, oral anticoagulation is not a contraindication to OC use. The risk of OC-associated thromboembolism is considerably lower than that of pregnancy-associated thromboembolism.
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PMID:Contraceptive choices in women with coagulation disorders. 851 43

Hereditary protein S deficiency (HSPD) is a predisposing factor to recurrent venous thrombosis but is not currently associated with stroke. We report two cases of HSPD revealed by stroke in young adults. The first one was a 36-year-old patient whith a pure motor hemiplegia, who gradually recovered without sequelae. Total and free protein S was decreased (55 and 10%). One of his brothers died from pulmonary embolism at 20 years and a sister had low protein S level without clinical signs. The second case was a 26-year-old patient who had a right hemiplegia with aphasia due to an infarction in middle cerebral artery area. He partially recovered, but the course of the illness was complicated by deep venous thrombosis of the lower limbs and pulmonary embolism. Total and free serum protein S level was severely decreased (25 and 0%). The patient's mother and one of his sisters also had low protein S but never had clinical complications. In both case, dupplex scanning, transcranial doppler, echocardiography, serum antithrombin III and protein C were normal. Cigarette smoking was the only risk factor for arterial disease. These two cases suggest that HSPD must be investigated in young patients with stroke, even in cases of lacunar stroke.
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PMID:[Cerebrovascular complications and hereditary protein S deficiency: 2 cases]. 876 59

The diagnosis of thromboembolic diseases is still difficult to establish before the occurrence of the pathological event, although it is now known that they are the result of a progressive alteration of the cardiovascular system. Introduction of new diagnostic tools for the evaluation of the thromboresistance capacity of the body or for the measurement of molecular markers allows the testing of the body defenses against thrombosis which is becoming a routine clinical diagnosis. Antithrombin III (AT III), protein C, protein S, and parameters of fibrinolysis have been recognized to be very important anticoagulant proteins and regulators of thrombin formation and thrombus extension. Furthermore, a normal factor V is necessary for the normal function of the protein C pathway. The presence of a factor V mutation leads to the activated protein C resistance syndrome. However, the major incidence of thrombotic events concerns the overall population. It has been epidemiologically related to the existence of risk factors producing blood activation, which progressively saturates the body's thromboresistance. This period is clinically silent for a long time. The new molecular markers recently introduced can show the existence of a preclinical state of blood activation at the plasma level (fibrinopeptide A, thrombin-antithrombin complexes, modified antithrombin III, fragments 1 + 2 of prothrombin, D-dimer) or at the platelet level (B-thromboglobulin, platelet factor 4, and thrombospondin), and promising developments concern the endothelial level (soluble thrombomodulin). The most universally used blood activation test is the D-dimer assay. This analyte has become very popular in past years for its high sensitivity, its long half-life, and its easy detection directly on citrated plasma. Its negative predictive value (in deep venous thrombosis or pulmonary embolism) as well as its use for monitoring of thrombotic risk in the post-operative period have been well documented clinically. New investigations are initiated to find analytes reflecting endothelial damage, an early platelet activation, or the involvement of blood cells (mainly monocytes and neutrophils) in abnormal processes. It also becomes possible to evaluate directly pathological causes inducing blood activation, such as the presence of antiphospholipid antibodies or other autoimmune antibodies.
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PMID:Thromboembolic diseases: biochemical mechanisms and new possibilities of biological diagnosis. 880 28

The clinical history of well-documented personal or familial episodes of thromboembolism with systematic construction of a genealogical tree orients the diagnosis of hereditary or acquired thrombophilia. The presence of favorable medical or surgical conditions for pulmonary embolism (surgical operation, prolonged bed rest, oral contraception, pregnancy, etc) are commonly observed in thrombophilia. Young age, under 40, at the time of the first episode, the recurrent nature of thromboses and a positive family history are three criteria in favour of the diagnosis of hereditary thrombophilia. Laboratory tests should be performed, if possible anticoagulant therapy, or taking into account its effect on the results, heparin reducing the antithrombin level and the oral anticoagulants those of proteins C and S and affecting the "classical" test of resistance to activated protein C. This abnormality is observed in nearly 20% of patients with previous thromboembolism in familial thrombophilia whereas it is twice less common in deficits of antithrombin, protein C and protein S. The other more or less acknowledged causes, alteration of plasminogen, dysfibrinogenaemia, homocysteinaemia, particular blood diseases, indicating systematic association of a full blood count with blood clotting tests, are much more rare. Of the acquired thrombophilias, the commonest is the presence of circulating anticoagulant and/or anticardiolipine antibodies, these two conditions also requiring systematic investigation. Biological examinations for determining the cause of unexpected pulmonary embolism is essential but should not delay instauring treatment. It should be associated with a familial enquiry if the patient has a hereditary thrombophilia. Interpretation of the results should obey the rule of the 3 cs: is the biological abnormality the cause, a coincidence or the consequence of the affection?
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PMID:[Study of hemostasis in patients with a recent thromboembolic complication]. 881 42

The effect of oral contraceptive therapy was studied in five patients with homozygous activated protein C resistance. Patients with this congenital abnormality, in contrast to those with antithrombin, protein C or protein S deficiencies, showed only a mild thrombotic tendency. In fact, only two of six observations (one patient took the pill on two separate occasions many years apart) showed deep vein thrombosis. No patient had pulmonary embolism. Two additional patients had a superficial vein thrombosis of the legs. In two instances, a superficial vein thrombosis and a deep vein thrombosis, concomitant risk factors were present (immobilization and surgery for an ovarian cyst, respectively). However, compared with heterozygous for the same abnormality, the symptomatic homozygous patients with APC resistance appeared to develop thrombosis after a shorter period of oral contraception.
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PMID:Homozygous patients with APC resistance may remain paucisymptomatic or asymptomatic during oral contraception. 889 47


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