[Thrombophilia in ulcerative colitis]. / Thrombophilia jelensége colitis ulcerosában.

The authors report a combined occurrence of thrombophilia and colitis ulcerosa and provide an analysis of relevant references in earlier works. It is likely intertwinning of the two disease's symptoms, the chronic cause of the condition and the underlying molecular biology variations cannot be traced back to a single cause. Further research is required to establish whether the protein-C anomaly exhibited in the presented case is general in this condition or an individual occurrence. The publication emphasises that in future cases it will be advisable to perform tests capable of proving or refuting the abnormality of protein-C.

[Homozygous (or double heterozygous) antithrombin III defect: AT-III, Budapest 4]. / Homozygota (vagy dupla heterozygota) antithrombin-III defektus: AT-III, Budapest 4.

A quantitative-qualitative AT-III deficiency was found in a young woman with severe thromboembolic episodes. Only AT-III molecules with a low heparin affinity were detected in her plasma and these pathological AT-III molecules could not increase the rate of the thrombin-inactivation at all. The pathological AT-III molecules were present in the blood of her father and one of her sisters, but only in a 50% quantity, the other half of the AT-III molecules proved to be functionally normal. The mother of the proposita had deceased earlier, thus she could not be investigated. However, the authors suggest a heterozygous state for her as well, because this assumption can explain the homozygous (or double heterozygous) state of the proposita. In accordance with the convention, this abnormality was designated as AT-III Budapest 4, and the exact biochemical and genetic background of the disorders can be clarified only by further investigations.

[Distribution of the causes of congenital thrombophilia]. / A veleszületett thrombosis-hajlam (thrombophilia) okainak megoszlása.

In recent years there have been discovered more and more such connatal mostly hereditary coagulopathies, which can explain the thrombosis susceptibility of the given individual or/and the family. The International Thrombosis and Haemostasis Society made a survey to estimate the frequency of those defects causing thrombophilias. In this survey the authors analysed the cases of their patients according to the given points of view. In their work they discuss some theoretical and practical problems of the theme, which can have an importance in respect to the everyday medical practice.

Distinction of two pathologic antithrombin III molecules: antithrombin III "Aalborg' and antithrombin III "Budapest'.

Plasma from two different thrombophilic families with functional inherited antithrombin III deficiency, i.e., with low antithrombin III activity but normal immunoreactive antithrombin III concentration, were investigated simultaneously in the same laboratory. The experiments (thrombin and Factor Xa inactivation, heparin affinity chromatography, modified two dimensional immunoelectrophoresis and gel filtration) showed a distinct difference between the two antithrombin III anomalies. The antithrombin III "Aalborg' had decreased thrombininactivating activity but normal Factor Xa-inactivating activity. The heparin affinity and the molecule weight are normal. The antithrombin III "Budapest' displays a more profound abnormality with pathologic thrombin and Factor Xa inactivation, decreased heparin affinity and abnormal molecular weight.

Heterogeneity of the "classical" antithrombin III deficiency.

We investigated two thrombophilic families with the "classical" type of antithrombin III deficiency, i.e., with a low antithrombin III level measured both by immunochemical and functional methods. We obtained different antithrombin III patterns in the plasma of the affected members of the two families with the modified two dimensional immunoelectrophoresis method (heparin in agarose). In one family, the electrophoretic mobility of the antithrombin III is identical with that of normal antithrombin III. In the other, the antithrombin III displayed a decreased electrophoretic mobility in the heparinized agarose gel. The relatively low affinity of this antithrombin III to heparin could be directly proved by the heparin-agarose affinity chromatography, too. These two different antithrombin III patterns were observed by other investigators at different families as well. On the basis of our simultaneous observations of these two families we propose a classification of the inherited congenital antithrombin III deficiencies.