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)

Three patients with an acute exacerbation of ulcerative colitis (a 40-year-old and a 31-year-old man and a 30-year-old woman) developed a protein C deficiency (serum protein C activity between 32 and 48%). In the two men the protein C deficiency was diagnosed only after the onset of severe thromboembolic complications (cavernous sinus thrombosis; pulmonary embolism) during heparin treatment. But in the woman protein C activity was measured immediately after hospital admission (in the knowledge of the first two cases) even before heparin administration was started. All three patients received treatment with sulphasalazine (3 g daily) and fluocortolone (60 mg daily), as well as full heparinization (22,500-36,000 IU daily). Protein C activity returned to normal on remission of the ulcerative colitis (in one case only after subtotal colectomy). These case reports show that acquired protein C deficiency can be reversed by rigorous treatment of the underlying disease.
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PMID:[Acquired protein C deficiency in ulcerative colitis. The cause of thromboembolic complications]. 162 40

Protein C and S are important factors in blood coagulation reported in many papers about people who suffered from thromboembolic diseases related to inherited or acquired deficiencies. Homozygous protein C/S deficiency is lethal in most cases without therapy. Heterozygous deficiency is moderate and complications occur between the 20.-50. year of age. Acquired protein C/S deficiency is a strong parameter for liver function. The typical clinical manifestations of protein C/S deficiencies are superficial and deep leg vein thrombosis, thrombosis of the mesenterial, cerebral, renal and axillary veins, portal vein thrombosis and pulmonary embolism. Most of the affected people live disease free over a longer period and develop thromboembolic complications during and after trauma, surgical interventions, pregnancy and puerperium. We report our experience with a 60 years old male who had developed a severe bilateral iliofemoral vein thrombosis with signs of pulmonary embolism after total hip replacement. An extended functional protein C deficiency (type II) was investigated by coagulation tests (Protein C Reagent, coagulometric from Behring Institute). A second female patient developed a descending iliofemoral vein thrombosis during pregnancy. Venous thrombectomy with arteriovenous fistula was performed, but reocclusion occurred after delivery. Redo-surgery was undertaken and a second reocclusion took place 10 days later. Further lysis therapy was not able to reopen the venous system. Whereas immunological and functional protein C levels showed normal ranges, the functional protein S level was markedly reduced (IL-Instrumentation Laboratory Protein S-Test).
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PMID:[The clinical importance of protein C and S deficiency for surgical patients]. 153 92

Every thromboembolic manifestation, especially in young subjects, calls for an aetiological study in which haemostasis is evaluated primarily with assays of physiological coagulation inhibitors: protein C, protein S and antithrombin III. Protein C deficiency is found in 6 to 7% of thromboembolic manifestations. We report the case of a 21-year old man who had phlebitis followed by pulmonary embolism without facilitating factors. Protein C level was 50% of normal value (0.50 IU/ml). The patient received heparin, subsequently replaced by oral anticoagulants after a long period of overlap between the two treatments. The outcome was favourable. Family investigation yielded a history of thromboembolic accidents in several members of the family, some of whom were protein C deficient (50% of normal value). Protein C synthesis is vitamin K-dependent. Protein C deficiency is transmitted as an autosomal dominant trait. Normal values range from 0.65 to 1.35 IU/ml. Clinically, 25% of the patients are said to be asymptomatic. The first thrombotic accidents occur in young subjects (mean age 29 +/- 14 years). Several points emerge from this case: full evaluation must be performed, especially in young subjects; family investigation consolidates the diagnosis and enables symptomatic protein C deficient patients to be treated and thrombotic manifestations to be prevented by effective anticoagulant therapy in high-risk situations; a prolonged period of heparin-oral anticoagulant overlap is needed to avoid cutaneous necrosis.
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PMID:[Recurrent thromboembolism disclosing protein C deficiency. Apropos of a case with familial investigation]. 207 65

Protein C (PC) is the central component of a major antithrombotic regulatory system with both anticoagulant and profibrinolytic properties. A deficiency of PC is one of several hereditary abnormalities of haemostatic proteins that have been described in patients with a propensity for thromboembolic complications. Major morbidity is often seen in these patients. The various aspects of hereditary PC deficiency in terms of clinical presentation, genetics, diagnosis and treatment of both homozygous and heterozygous states will be presented. In heterozygous deficiency, the levels of plasma PC are usually between 35% and 65% of normal, whereas the majority of normal individuals have levels between 70% and 130%. PC-deficient patients usually develop venous thrombotic complications between the ages of 15 and 40 years with a high incidence of DVT and pulmonary embolism. The majority of thrombotic lesions appear to develop spontaneously; others are associated with trauma, surgery or pregnancy. Treatment of symptomatic patients is initial heparin therapy followed by coumadin. After multiple thrombotic events, lifelong oral anticoagulant therapy is necessary. The potential complications of treatment are coumadin-induced skin necrosis, heparin-induced thrombocytopenia and bleeding. Homozygous PC deficiency, a rare but fatal hereditary condition, manifests itself with massive DIC and purpura fulminans in the newborn period. Effective treatment for these infants can be instituted with either oral anticoagulant therapy or PC replacement. The heterozygous deficiency of PC is similar to that found in other inherited disorders in that several genetic mechanisms are responsible for the expression of the disease. Both quantitative and qualitative decreases in PC exist, the former being type I deficiency and the latter, type II. The best initial diagnosis of either form involves a clotting (functional) assay while differentiation between the two also requires an antigenic (immunological) assay. Autosomal inheritance with significant variable penetrance is found with profound clinical implications. In summary, PC deficiency is one of a group of inherited disorders termed hereditary thrombotic disease, which may have serious implications for patient morbidity and mortality.
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PMID:Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment. 210 16

Protein C and antithrombin III represent main inhibitors of the plasmatic coagulation system. Due to the lack of practicable assays the clinical importance of protein C was only established during the last six years. In familial protein C deficiency 77% of patients present with recurrent venous thromboses, half of them below the age of 30. In addition to recurrent superficial thrombophlebitis more serious manifestations like deep vein thrombosis and pulmonary embolism have been described. Mesenteric vein thrombosis has been reported in only 5 cases all of which could be controlled by conservative treatment. In our patient protein C deficiency was discovered 10 years after the angiographic diagnosis of portal and mesenteric vein thrombosis. Thereafter, the patient complained of recurrent abdominal discomfort. Intestinal ischaemia due to mesenteric vein thrombosis required segmental resection twice. Postoperatively the patient was heparinized. After excluding a secondary protein C deficiency due to a lack in vitamin K, hepatic disease, or disseminated intravascular coagulation, long-term anticoagulation by dicumarol was implemented as therapy of first choice.
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PMID:[Protein C deficiency with recurrent infarct of the small intestine]. 231 54

A heterozygote protein C deficit was found in 4 members of the same family. The propositus is a 40 year old male with a clear thrombotic tendency. This included repeated thrombophlebitis of the right leg, and one episode of pulmonary embolism. Arterial thrombosis was not noted. The anticoagulant therapy undertaken by the patient appears to be of some benefit in the sense that no recurrence of thrombotic manifestations occurred. One brother and two nephews of the propositus, even though asymptomatic showed reduced levels of Protein C both as activity and antigen. The parallel reduction of Protein C activity and antigen points towards a "true" deficit of Protein C. The normal, although reduced, pattern in the crossed immunoelectrophoresis supplies further confirmation to this interpretation.
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PMID:The report of an Italian family with heterozygous protein C deficiency. 246 57

Protein C is an important physiological inhibitor of coagulation. A deficiency of this protein is a recognised cause of recurrent venous thromboembolism. The assay for protein C was not locally available until recently. Our investigation of a young Malay woman who had sustained two previous pulmonary emboli led us to identify the first family in Singapore with this familial disorder. The definitive diagnosis of symptomatic protein C deficiency justifies longterm anticoagulant therapy in two members of this family. We now systematically screen all young adults who present with the first episode of deep venous thrombosis or pulmonary embolism irrespective of whether the event is spontaneous or seemingly precipitated.
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PMID:Hereditary protein C deficiency--the first symptomatic family in Singapore. 280 9

Protein C is, after activation by thrombin, a potent inhibitor of blood coagulation. An isolated deficiency of protein C increases the risk of thrombosis. The two forms of protein C deficiency, the heterozygous and the homozygous deficiency state, have different clinical features. Patients with heterozygous protein C deficiency are at a high risk to develop venous thrombosis and pulmonary embolism. In newborns with homozygous protein C deficiency with very low protein C levels (1%) a purpura fulminans like syndrome was observed. Heparin and coumarin derivatives are effective drugs in heterozygous protein C deficiency, homozygous patients may be treated either by replacement of protein C or coumarin derivatives. Decreased protein C levels were observed in various other diseases: Chronic and acute liver disease, disseminated intravascular coagulation, malignancy, postoperatively and during treatment with asparaginase. The role of protein C in these diseases to trigger thrombosis is not yet established.
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PMID:Clinical relevance of protein C. 352 11

Eleven of 204 children with nephrotic syndrome had thrombotic complications: arterial thrombosis in five, venous thrombosis in four, and pulmonary embolism in two. Fifty-one episodes of thromboembolism were recognized in 116 adult patients with nephrotic syndrome. Despite the lower incidence, thromboembolic complications tended to be more severe in children. In vitro indices of hemostasis and clinical evidence of thromboembolic complications were compared in children and adults. Antithrombin III concentrations and activities were abnormal in seven of 10 children, but in only two of 32 adults. In both groups, alpha 2-macroglobulin was elevated, but more markedly so in children. No evidence for circulating granulocyte-derived proteases (elastase/antielastase complexes) was noted in either group. Protein C was significantly elevated in children with nephrotic syndrome, but was normal in adults. Children also differed from adults with nephrotic syndrome in laboratory evidence of subthreshold disseminated intravascular coagulation (i.e., elevated soluble fibrinogen monomeric complexes and fibrin degradation products) and indicators of in vivo platelet activation (elevated beta-thromboglobulin). The more severe coagulation abnormalities in children may be linked to the more pronounced hypoalbuminemia.
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PMID:Hemostasis and thromboembolism in children with nephrotic syndrome: differences from adults. 358 1

Protein C is a vitamin K-dependent protein which is produced in the liver. Activated protein C has an anticoagulant effect by inactivating the clotting factors V and VIII. We report on a young female patient who suffered from recurrent thrombosis of the deep calf and pelvic veins with pulmonary embolism. Superficial thrombophlebitis also occurred repeatedly. In the plasma of this patient we found reduced levels of protein C antigen (0.62 U/ml) and activity (0.42 U/ml). Investigation of other family members revealed a protein C deficiency in her father, sister, and son. During the anticoagulant treatment with Marcumar the patient developed a coumarin-induced skin necrosis, to which complication a protein C deficiency is evidently predisposed. This complication could only be prevented if heparin was given simultaneously during the adjustment period.
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PMID:[Protein C deficiency--a risk factor for venous thrombosis]. 654 80


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