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P Simioni

Publications and source records attributed to P Simioni.

At least 109 records · Page 6Linked to original sources
PubMed1992

Combined inherited protein S and heparin co-factor II deficiency in a patient with upper limb thrombosis: a family study.

A 42-year-old Italian woman presenting with spontaneous deep vein thrombosis of the right arm, was found to have inherited a deficiency of both protein S (PS) and heparin co-factor II (HC II). The two defects seemed to segregate independently, since her son exhibited only a HC II deficiency while one of her sisters manifested only the PS defect. All affected patients appeared heterozygous for one or other or both deficiency states. The proposita and her sister exhibited a congenital PS deficiency consisting of normal or near normal levels of total PS antigen and C4b-binding protein (C4b-BP) but a moderate reduction both of free PS antigen and of PS functional activity. In addition, the proposita and her son had half normal levels of HC II antigen and activity. Except for the proposita, all were asymptomatic. Inherited deficiencies either of PS or of HC II have been associated with thrombotic manifestations. Since the proposita had an inherited combined defect of the two proteins, severe thrombotic events might be expected. However, this was not found to be the case. The role of HC II deficiency in the pathogenesis of thrombosis whether alone or combined remains to be fully investigated.

Adolescent↗
PubMed1992

Intra-cardial thrombosis with systemic and pulmonary embolism as main symptoms in a patient with protein S deficiency.

This report describes the unusual occurrence of both left and right atrial thrombosis with peripheral arterial and pulmonary embolism, respectively, as presenting symptoms of congenital protein S deficiency in a 31-year-old man. The coagulation study performed in the coumarin-treated propositus indicated a heterozygous protein S state. The finding of reduced free protein S antigen and protein S activity levels with normal total protein S and C4B-bp levels in five other family members (father, sister, and three relatives on the paternal side) confirmed the inherited nature of the defect. Since there is an increased frequency of arterial thrombosis in patients suffering from protein S deficiency, any case of idiopathic intra-cardial thrombosis requires careful haemostatic screening. In addition, the possibility of intra-cardial thrombosis should be considered in any thromboembolic event seen in inherited protein S deficiency.

Adult↗
PubMed1992

Occurrence of arterial thrombosis in a cohort of patients with hereditary deficiency of clotting inhibitors.

Hereditary deficiency of protein C, protein S or antithrombin III has been associated with an increased incidence of venous thrombosis or pulmonary embolism. The relationship between these deficiencies and the development of arterial thrombosis is a matter of current investigation. We retrospectively studied the occurrence of arterial thrombosis in 92 symptomatic patients belonging to a group of 160 with a confirmed diagnosis of hereditary deficiency of one of the physiologic clotting inhibitors. Seventeen of them experienced at least one arterial thrombotic event. This indicates that about one out of five of the symptomatic patients had experienced arterial thrombosis. The control group consisted of 92 sex and age matched (+/- 5 years) patients with no clotting deficiency who had experienced in the same period at least one episode of deep vein thrombosis or pulmonary embolism. Only one of them had developed arterial thrombosis. Ischemic stroke, myocardial infarction, upper and lower limb arterial thrombosis, and mesenteric artery occlusion occurred regardless of the type of defect taken into account; mean age of about 37.05 +/- 23 years (mean +/- SD). In some cases, arterial thrombosis was fatal. The overall number of venous thrombotic events in the 92 symptomatic patients of this study was much higher than that of arterial thrombosis, with a ratio of 24 to 1. The use of long-term anticoagulant therapy in our group of patients seemed to be able to prevent recurrences of both arterial and venous thrombosis.

Adolescent↗
PubMed1991

The role of drugs, particularly oral contraceptives, in triggering thrombosis in congenital defects of coagulation inhibitors: a study of six patients.

It is well established that pregnancy and puerperium, surgery and trauma may often trigger thrombotic events even in the normal population. On the other hand, patients with congenital deficiency of clotting inhibitors may develop spontaneous thrombotic episodes, although they become often symptomatic when one of the above-mentioned triggering factors is present. We found this to be true in 40 out of 81 symptomatic patients with congenital defects of coagulation inhibitors. In six (15%) of these cases medications (mainly oral contraceptives) triggered the thrombotic event. The incidence of pharmacological factors as a cause of thrombosis is commonly maintained to be low. This study indicates that this is not so and underlines the potential importance of drugs, particularly oral contraceptives, in the pathogenesis of thrombotic events in patients with congenital defects of clotting inhibitors.

Adult↗
PubMed1991

Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report.

Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and has manifested deep venous thrombophlebitis. Two additional relatives on the maternal side were not available for study but were reported to be symptomatic. None of the family members presented angiomatosis. This case report represents the first description of the association of protein C deficiency with multiple hemangiomas.

Adolescent↗
PubMed1990

Heterozygous protein-S deficiency: a study of a large kindred.

Another family with protein-S deficiency is described here. The defect is characterized by a reduced level of total protein-S antigen; in addition, a markedly reduced level of free protein-S antigen was found. We have studied 20 family members. Ten of them showed reduced levels of protein-S antigen. Five of the affected patients manifested 'thrombophilia'. All the symptomatic patients developed the first thrombotic event at a young age. Heparin and oral anticoagulants were useful for the treatment of the acute phase of the thrombotic events, and in 1 symptomatic patient, the life-long oral anticoagulation treatment was effective in preventing relapses. On the other hand, all the symptomatic but untreated family members developed several recurrent thrombotic episodes.

Adult↗
PubMed1990

Hereditary heparin cofactor II deficiency and thrombosis: report of six patients belonging to two separate kindreds.

We describe six patients belonging to two families with congenital heparin cofactor II deficiency (HC II). The affected members had low levels of HC II antigen and activity, and no abnormalities in HC II electrophoretic mobility were detected in the presence of heparin or dermatan sulphate during the first migration of crossed immunoelectrophoresis. These data suggested that patients had a type I (true) HC II deficiency. The association of thrombotic manifestations with congenital HC II deficiency has not been completely clarified. In these two families, thrombotic events occurred in two out of six affected members. In addition, there was a high incidence of spontaneous abortion in the affected females. Finally, the association of congenital HC II deficiency with angiomatosis was also observed in one patient.

Abortion, Habitual↗
PubMed1989

Severe arterial cerebral thrombosis in a patient with protein S deficiency (moderately reduced total and markedly reduced free protein S): a family study.

Deficiency of protein S has been associated with an increased risk of thrombotic disease as already shown for protein C deficiency. Deficiencies of any of these two proteins predispose to venous thrombosis but have been only rarely associated with arterial thrombosis. In this study we describe a case of severe cerebral arterial thrombosis in a 44-year old woman with protein S deficiency. The defect was characterized by moderately reduced levels of total and markedly reduced levels of free protein S. C4b-bp level was normal. Protein C, AT III and routine coagulation tests were within the normal limits. In her family two other members showed the same defect. All the affected members had venous thrombotic manifestations, two of them at a relatively young age. No other risk factors for thrombotic episodes were present in the family members. The patient reported was treated with ASA and dipyridamole and so far there were no relapses.

Adult↗
PubMed1989

Effects of glycosaminoglycans and protamine chloridrate on platelet aggregation induced by collagen and thrombin.

The effects of heparin (HE), dermatan sulfate (DS), heparan sulfate (HS) and protamine chloridrate (PC) on platelet aggregation were studied. Both PC and the three glycosaminoglycans (GAGs) did not influence collagen-induced platelet aggregation. In contrast, all the tested GAGs blocked thrombin-induced platelet aggregation. HE and HS were equivalent and very effective, while DS was also but to a lesser extent. This could be because HE and HS act via both antithrombin III and heparin-cofactor II, whereas DS exerts its action on the latter only. PC, too, inhibited, in a dose-dependent fashion, thrombin-induced platelet aggregation, probably by competing with the thrombin affinity binding sites on the platelet surface. When the GAGs were tested together with PC, HE was shown to be the most effective: on a weight-for-weight basis, an identical amount of PC was unable to counteract the inhibitory effect of HE, while it partially reversed those of DS and HS. A full reversal of the inhibitory effect of DS and HS was never observed, in spite of adding increasing amounts of PC. It seems likely that plasma components may preserve the bindings of such GAGs with their cofactors.

Collagen↗