SummaryFactors XII, XI, IX and VIII, plasminogen and alpha2-antiplasmin levels were found to be increased in a group of patients affected by Cushing’s syndrome. High activity of these coagulation factors could be due to their increased release and synthesis mediated by cortisol. A significant correlation between the main arterial pressure and either factor VIII antigen, ristocetin cofactor or factor XII activity was found. Moreover a similar correlation between factor XII activity and either factor VIII antigen or ristocetin cofactor was seen. In conclusion, the presence of a hypercoagulable state in Cushing’s syndrome seems confirmed. Synergic release of factor XII and factor VIII from endothelium could be due to high blood vessel tone secondary to hypercorticism. Finally, decreased fibrinolytic activity was suspected according to plasminogen and alpha2-antiplasmin increase.

The aim of the study was to investigate the relevance of β-thromboglobulin (β tg) measurement in patients with thrombocytosis. We have, therefore, studied the level of plasma and platelet βtg in 74 patients with high platelet count in addition to the evaluation of platelet aggregation and platelet serotonin (5-HT) content. The determinations of platelet serotonin content and aggregation are confirmed to be useful in the differentiation between primary and secondary forms of thrombocytosis. The mean plasma level of βtg in patients with myeloproliferative disease was significantly raised, but the amount observed in subjects with secondary thrombocytosis is increased too. Considering the amount of βtg in relation to whole blood platelet count (βtg ratio), no difference was observed between all patients and controls. The βtg ratio allowed the identification of a group of patients with an increased ratio and a decreased βtg platelet content who showed the highest occurrence of thrombosis (66%).

A patient with combined factor VII and factor VIII deficiency is discussed. The propositus is a 21-year-old male who presented a mild bleeding tendency. The patient appears to be a hemophilia and at the same time heterozygote for factor VII deficiency. This conclusion is based on the fact that heterozygosis for factor VII deficiency was present in the father and in other relatives of the paternal side. On the contrary, no factor VII deficiency was present in the maternal side of the family. However, the maternal grandfather was known to have been a bleeder and the propositus’ mother, his sister and his aunt had low-normal factor VIII levels and were probably hemophilia A carriers. This type of combined factor VII and factor VIII deficiency appears to be due to the casual association of two independently segregating defects

23 patients with hemophilia B have been investigated by means of several immunological methods. 16 patients (69.9%) had no detectable factor XI antigen. Five had a normal factor IX antigen and the electrophoretic mobility of this abnormal factor IX was similar to that of its normal counterpart. One of these five patients had hemophilia B(m), since ox brain thromboplastin clotting time was severely prolonged. The remaining two patients had reduced or decreased factor IX antigen. Several patients showed a slight prolongation of ox brain thromboplastin time due to an associated slight factor VII deficiency. On the basis of these results, a tentative classification of hemophilia B into five variants is proposed, namely: hemophilia B-, or with no factor IX antigen; hemophilia B+, or with normal factor IX antigen; hemophilia B(ra), or with reduced factor IX antigen; hemophilia B(m), or with normal factor IX antigen and severely prolonged ox brain thromboplastin; hemophilia B, usually B-, with associated mild factor VII defect. A complete evaluation of the hemophilia B patients is feasible only by means of a battery of tests, namely : factor IX activity assay, factor IX antigen determination, ox brain thromboplastin clotting time, factor VII activity assay.

A new factor VII abnormality is presented. The propositus was a 9-yr- old child who presented a mild bleeding tendency characterized by epistaxis and easy bruising. The parents were not consanguineous, but they came from the same area. The laboratory features were mild prolongation of prothrombin time and P.P. test and normal partial thromboplastin and Stypven cephalin clotting times. The Thrombotest was moderately prolonged. Factor VII was 40%-50% of normal using rabbit or human brain thromboplastin, but only 13%-24% using ox brain thromboplastin. Factor VII cross-reacting material (CRM) was about 50% of normal. The father, a paternal aunt, and a paternal cousin showed similar clinical and laboratory findings. The brother of the propositus, the mother, and other members of her family showed about 50% factor VII activity and CRM and were considered to be heterozygotes for true factor VII deficiency. Similar findings were also present in the father and in the brother of the affected cousin. The defect in the propositus seems to consist of a double heterozygosity between abnormal factor VII and heterozygous factor VII true deficiency. The factor VII abnormality appears to consist of abnormal reactivity toward ox brain tissue thromboplastins and appears to be different from previously described factor VII abnormalities. The name factor VII Paudua2 is proposed for this condition.

SummaryThirteen women and 2 men affected by Cushing’s syndrome were investigated. The following parameters were used: plasma and urinary cortisol levels, factor VIII assay (antigen, activity and von Willebrand factor) together with other coagulative assays.Samples were taken before surgery or before medical and/or radiation therapy and every 30–50 days after treatment and continued for 11 months. Cortisol and factor VIII were increased before treatment and decreased slowly after treatment to become normal in 3–4 months. Other clotting tests did not show significant changes. It seems that high plasma cortisol levels may stimulate the production of factor VIII. Patients with Cushing’s syndrome often exhibit thromboembolic complications after surgery. It is likely that the clotting abnormalities responsible for such complications is the increased factor VIII activities level.

Factor VII activity and cross-reacting material was assayed in fresh and deep frozen non-contacted plasma in 43 patients with Hemophilia B belonging to different kindreds. Factor VII activity was found to be slightly decreased (about of 50% normal) in 12 patients, regardless of the thromboplastin used. In an additional patient (hemophilia BM) factor VII was slightly decreased in 1 : 10 diluted plasma but was normal in further diluted plasma. In the remaining 30 patients factor VII activity was normal. No significant variation was found between fresh and deep frozen plasmas. Factor VII antigen or cross-reacting material was normal.

23 patients with hemophilia B have been investigated by means of several immunological methods. 16 patients (69.9%) had no detectable factor XI antigen. Five had a normal factor IX antigen and the electrophoretic mobility of this abnormal factor IX was similar to that of its normal counterpart. One of these five patients had hemophilia Bm, since ox brain thromboplastin clotting time was severely prolonged. The remaining two patients had reduced or decreased factor IX antigen. Several patients showed a slight protongation of ox brain thromboplastin time due to an associated slight factor VII deficiency. On the basis of these results, a tentative classification of hemophilia B into five variants is proposed, namely: hemctor IX antigen; hemophilia Bra, or with reduced factor IX antigen; hemophilia Bm, or with normal factor IX antigen and severely prolonged ox brain thromboplastin; hemophilia B patients is feasible only by means of a battery of tests, namely:factor IX activity assay, factor IX antigen determination, ox brain thromboplastin clotting time, factor VII activity assay.