Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 31-year-old female who had repeated thrombosis and was diagnosed as having congenital homozygous protein C deficiency based on decreased protein C antigen and activity, and the findings of family history. This patient had shown no symptom of thrombosis until the age of 27 years, when she had cerebral infarction as the first symptom. Low molecular weight heparin was useful for disseminated intravascular coagulation (DIC) that complicated protein C deficiency in this patient.
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PMID:Late-onset homozygous protein C deficiency manifesting cerebral infarction as the first symptom at age 27. 133 7

During the period January 1982 till June 1988, 536 patients underwent 577 carotid thrombendartectomies in the Department of Vascular Surgery RK in the University Hospital in Copenhagen. Preoperatively, 270 patients (47%) had experienced transient ischaemic attacks (TIA), 247 (43%) had experienced stroke (APC) and 19 (3%) had non-focal symptoms while 41 (7%) had asymptomatic stenoses. Postoperatively, 17 (2.9%) patients developed TIA, 22 (3.8%) developed slight neurological symptoms and 40 (7%) had more severe neurological complications and six of these (1%) died. None of the patients died from other causes during the first month. The frequency of complications had no relationship to the preoperative focal symptoms, but in patients with non-focal symptoms this was 37%. The degree of stenosis of the contralateral internal carotid artery (ICA) was correlated positively with the occurrence of severe neurological complications which were observed in 5% without contralateral ICA changes, in 7% with stenoses and in 20% with contralateral ICA occlusion. Patients with cerebral infarction developed complications significantly more frequently (20%) than patients with normal CT scans. The risk was also found to be increased in cases with a high pressure gradient across the stenosis and low pressure peripherally in the occluded artery (stump pressure). Follow-up examination of the 73 patients with complications on average 39 months after operation revealed that 37 patients (6.4%) had severe neurological symptoms resulting either from the operation or subsequent APC; seven patients required complete nursing care (1.2%) and 17 patients died during the period of observation. On follow-up examination, 15 patients had been occupationally active for at least 1.5 years.
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PMID:[Neurologic complications in connection with the surgical treatment of 577 cases of carotid artery stenosis]. 232 34

Among 53 patients with hereditary protein C deficiency belonging to 20 families three women were encountered who, aged 27, 34, and 38 respectively, had had cerebral haemorrhagic infarction, probably due to intracranial venous thrombosis. All three had also had venous thrombosis of the leg and pulmonary embolism either before or after their cerebral infarction. One patient sustained cerebral infarction while receiving an oral contraceptive, but infarction in the two others occurred "spontaneously." One patient also had an intraventricular and subarachnoid haemorrhage during the induction phase of coumarin treatment, which was assumed to have resulted from haemorrhagic infarction of the chorioid plexus, analogous to coumarin provoked haemorrhagic skin necrosis in protein C deficiency. Hereditary protein C deficiency should be considered in young patients with acute or subacute cerebral symptoms, especially if they have a family or personal history of venous thromboembolism.
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PMID:Cerebral haemorrhagic infarction in young patients with hereditary protein C deficiency: evidence for "spontaneous" cerebral venous thrombosis. 391 15

We observed 40 patients aged from 15 to 40 years who suffered either a transient ischemic attack or an arterial ischemic stroke. All patients were clinically and physically examined, i.e. chest-X rays, electrocardiograms, biological tests and C.T. scan or magnetic resonance imaging that confirmed the diagnosis of ischemic cerebral infarction. Most patients underwent echocardiography and angiography. The time span between the onset of the ischemic event and angiography was recorded. A few of them had CSF analysis and determinations of antithrombin III, protein C and protein S. The etiology was confirmed in 15 patients (5 cardioembolic diseases, 7 vasculopathies, 3 coagulopathies). Twenty three had well-known vascular risk factors, but also an increase in serum fibrinogen concentration, which might have been associated with specific predisposing factors: oral contraceptives, patent foramen ovale, migraine, craniocervical trauma, acute alcohol intoxication and infectious diseases. No cause was found in 2 patients. We suggest a practical approach and highlight the value of angiography when performed early in the course of the illness to enhance the percentage of positive diagnosis. About 45 p. 100 of the patients followed-up (mean duration: 3 years) were unable to resume normal professional activity.
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PMID:[Cerebral ischemic arterial accidents in young adults. 40 cases]. 802 69

Protein C, a vitamin K-dependent protein, is a blood coagulation inhibitor. Its deficiency causes systemic thrombosis. A 31-year-old woman developed cerebral infarction followed by late psychomotor seizures, and thrombosis in the inferior mesenteric vein and bilateral crural veins. Her parents were first cousins. Her mother died of cerebral thrombosis in her 30's. Her elder brother died of suspected purpura fulminans immediately after birth. Her protein C activity and protein C antigen level decreased markedly and were less than 5% of those of normal controls and 0.3 microgram/ml, respectively. Her father, a paternal aunt and a maternal uncle also showed a low protein C activity and protein C antigen level. This patient seems to have congenital protein C deficiency which produced thrombosis in the leg veins and the mesenteric vein, probably cerebral infarction.
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PMID:A case of protein C deficiency associated with cerebral infarction and obstruction of deep leg and inferior mesenteric veins. 820 99

The annual incidence of cerebrovascular disease in children is 2.5/100,000 and cerebral infarction is being increasingly recognised in neonates. Deficiency of proteins C and S and their roles in thrombosis have only recently been recognised. Immunologic and functional assays of these proteins now make it possible to determine whether deficiency of them is associated in any particular case of childhood cerebrovascular accident (CVA). We describe two patients, both presenting with stroke in childhood, who were found to be deficient, one in protein C and one in protein S.
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PMID:Protein C and S deficiency causing childhood stroke. 823 61

A 27-year-old woman suffered from a sudden onset of slight paralysis of the right side of her body and the inability to express herself by speech, writing, or signs. She was admitted to the National Rehabilitation Hospital in Washington, D.C., in the US. 6 months prior to these events, she had been in a motor vehicle accident and had since experienced headaches and generalized musculoskeletal pain. The only drug she took was an oral contraceptive (OC), which she took irregularly. Health workers could not arouse her upon admission. Clinical examination revealed symptoms consistent with a left hemispheric stroke. Cerebral computed tomography and magnetic resonance imaging revealed a left temporoparietal infarct. Her free protein S was only 27% on admission and 14% 11 days after admission (normal range, 55-125%). Over the next 72 hours, her physical condition deteriorated, entailing focal motor seizures, right Babinski's sign, loss of pain reflex response on her right side, and complete paralysis of the right side of her body. The left middle cerebral artery appeared to be constricted, which physicians first believed was caused by vasculitis but later found was the result of emboli. The patient developed right femoral vein deep thrombosis. The physicians treated her initially with heparin and followed with warfarin therapy. Nevertheless, embolus. Health workers placed a filter in her inferior vena cava and continued warfarin therapy. She did not experience any more thrombotic or embolic episodes during the rest of her hospital stay. OCs reduce circulating levels of free protein S which, along with activated protein C, inhibits clotting. OCs likely reduced her already existing low levels of free protein S. Deficiency of free protein S was likely responsible for the cerebral infarction and her thrombotic and embolic episodes.
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PMID:A case of cerebral infarction in association with free protein S deficiency and oral contraceptive use. 823 70

Two girls, 22 months and 12 years of age, presented with repeated cerebral infarctions in association with primary antiphospholipid syndrome. The younger patient also suffered from protein C deficiency, while the other one had protein S and complement C4 deficiencies. All other causes of cerebral infarction were excluded; however, vasculitis remains a possibility in one patient. Both girls developed spastic tetraparesis as a sequela of the previous infarctions. The two patients were treated with aspirin and prednisone, with remission of the infarctions during the next 8 months of observation. A primary deficiency of protein C or S is proposed which would produce cerebral thrombosis with exposure of phospholipids; this thrombosis then, like antigens, would generate antibodies acting on the thrombin-thrombomodulin complex, exacerbating the thrombotic process. The association of complement C4 deficiency is an additional risk factor.
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PMID:Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome. 845 4

The activated protein C (APC)-resistance test is a simple and reliable method for detecting reduced sensitivity to the anticoagulant action of this protein. We investigated the sensitivity to APC in 180 Japanese controls and in 96 Japanese patients with venous and arterial thrombosis (28 with deep vein thrombosis; 13 with pulmonary thromboembolism; 41 with cerebral infarction; and 14 with coronary artery disease). All of the patient groups showed significantly reduced sensitivity to APC, reflected by the lower normalized APC-sensitivity ratio (n-APC-SR), as compared with healthy control. The APC-sensitivity ratio was negatively correlated with plasma activated factor VII levels. These results suggest that the low n-APC-SR is related to venous or arterial thrombotic disease. The APC resistance may serve as a potential marker for assessing the hypercoagulable state.
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PMID:Clinical significance of activated protein C resistance as a potential marker for hypercoagulable state. 873 27

Inherited resistance to activated protein C (APC resistance) is an important risk factor of venous thrombosis. It is caused by a point mutation in the gene coding for coagulation factor V, called FV:Q506. Arterio-venous thrombosis is a common and serious medical problem in patients with systemic lupus erythematosus (SLE). We studied the prevalence of the factor V mutation associated with APC resistance and IgG anticardiolipin antibodies (aCLs) in an epidemiological cohort of 78 Swedish SLE patients, to determine their roles as risk factors for thrombosis. In addition, a detailed evaluation of the clinical manifestations in these patients was performed. Totally, 19 (24%) of the 78 SLE patients had thrombosis, 11 (14%) had venous thrombosis and 8 (10%) had a cerebral infarction caused by occlusion of cerebral vessels. Twenty-six (33%) SLE patients were aCL positive and 8 (10%) were heterozygous for the factor V mutation. Only one of the patients with venous thrombosis and one of the patients with cerebral thrombosis had the FV:Q506 mutation, whereas 3 patients with venous thrombosis and 5 patients with cerebral infarction were aCL positive. Eleven of 19 patients with heart valve disease were aCL positive, a statistically significant association (P = 0.01). In conclusion, we found no statistically significant association between venous thrombosis and FV:Q506 mutation or venous thrombosis and aCL positivity. There was, however, an association between heart valve disease and aCL positivity.
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PMID:Factor V:Q506 mutation and anticardiolipin antibodies in systemic lupus erythematosus. 911 3


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