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Összefoglaló. A szerzett haemophilia A ritka autoimmun betegség, melyben gátlótest képződik a VIII. véralvadási faktor ellen. Az inhibitor véralvadásra gyakorolt hatása súlyos, életet veszélyeztető vérzéses állapotot idéz elő. A beteg élete a gyors diagnózison múlik: a jellemző klinikai kép mellett a megnyúlt, normálplazmával nem korrigálható aktivált parciális tromboplasztinidő megléte esetén a kórkép alapos gyanúja merül fel. Egy súlyos vérszegénység miatt kórházunkba beutalt nőbeteg esetében a szerzett haemophilia A a felvételt követő napon már diagnosztizálásra került. A vérzés megszüntetésére aktivált protrombinkomplex-koncentrátumot alkalmaztunk, valamint immunszuppresszív terápiát vezettünk be. A kórkép korai felismerése és a megfelelő kezelés azonnali megkezdése a beteg gyógyulását eredményezte. Esetünkkel arra szeretnénk felhívni a figyelmet, hogy a szerzett haemophilia A gyors diagnózisa egyszerű, könnyen hozzáférhető véralvadási paraméter, az aktivált parciális tromboplasztinidő meghatározásán és nem korrigálható megnyúlásának felismerésén múlik. Orv Hetil. 2021; 162(49): 1977–1981. Summary. Acquired haemophilia A is a rare autoimmune disorder, in which antibodies are formed against coagulation factor VIII. The effect of the inhibitor on blood clotting results in severe, life-threatening bleeding diathesis. The patient’s life depends on the rapid diagnosis: besides the characteristic clinical presentation, a prolonged activated partial thromboplastin time, which is not corrigible with normal plasma, suggests the existence of the disorder. In the case of the female patient who was referred to our hospital due to severe anaemia, acquired haemophilia A was diagnosed rapidly, the day after her admission. We used activated prothrombin complex concentrate to stop the bleeding, and introduced immunosuppressive therapy. The early recognition of the disease and immediate initiation of adequate treatment resulted in the patient’s full recovery. With our case presentation, we would like to draw attention to the fact that the rapid diagnosis of acquired haemophilia A depends on the determination of a simple, easily accessible coagulation parameter, the activated partial thromboplastin time and on the immediate recognition of its incorrigible prolongation. Orv Hetil. 2021; 162(49): 1977–1981.

Abstract: Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 – 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of HHT cases have heterozygous family-specific mutations in the ENG or ACVRL1 genes. Aim: We investigated 23 Hungarian HHT families, established the genetic diagnosis, executed family-screening and confirmed founder effects. Method: Probands were identified by the stratified population screening of the primary attendance area of our institution and from individuals contacting our study group voluntarily. Diagnosis is based on the otorhinolaryngological physical examination completed with characteristic telangiectasis sites, a visceral arteriovenous malformation screening and the sequence analysis of ENG and ACVRL1 genes. The family screening consists of physical examination and genetic screening for the family-specific mutation, followed by the arteriovenous malformation screening in patients with definite/suspected HHT and/or in individuals with the mutation. Results: Sixty-three individuals with family-specific mutations were identified in 22 families, 48 of them with definite and 12 with suspected HHT. Seven ENG and ACVRL1 mutations were detected, respectively; most of these are pathogenic. Three founder mutations were observed. One proband with definite HHT had wild-type alleles in all tested HHT-specific loci. Conclusions: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710–719.

Abstract: The introduction of novel oral anticoagulants (NOAC) have long been expected drugs and they quickly became used widespread as their clinical effectiveness was as good as, or even better than the previously used only oral anticoagulant drug, the coumarins. Thus, the direct thrombin inhibitor dabigatran and the activated factor X inhibitors (rivaroxaban, apixaban, edoxaban) have become the part of daily therapeutic practice. Their permeation was facilitated by the guideline which suggested that no laboratory monitoring was required during NOAC treatment and this was very convenient for both patients and doctors. The clinical experience obtained in the past years, however have proved that the ‘one size fits all’ view is oversimplified and there are numerous situations when the determination NOAC levels is unavoidable or highly recommended. This review discusses the laboratory aspects of NOAC treatment, primarily summarizing their effect on the screening tests and special assays of hemostasis and we also describe the correct methods to determine their plasma concentrations. Orv Hetil. 2017; 158(49): 1930–1945.

Absztrakt

The introduction of novel oral anticoagulants (NOAC) have long been expected drugs and they quickly became used widespread as their clinical effectiveness was as good as, or even better than the previously used only oral anticoagulant drug, the coumarins. Thus, the direct thrombin inhibitor dabigatran and the activated factor X inhibitors (rivaroxaban, apixaban, edoxaban) have become the part of daily therapeutic practice. Their permeation was facilitated by the guideline which suggested that no laboratory monitoring was required during NOAC treatment and this was very convenient for both patients and doctors. The clinical experience obtained in the past years, however have proved that the 'one size fits all' view is oversimplified and there are numerous situations when the determination NOAC levels is unavoidable or highly recommended. This review discusses the laboratory aspects of NOAC treatment, primarily summarizing their effect on the screening tests and special assays of hemostasis and we also describe the correct methods to determine their plasma concentrations. Orv Hetil. 2017; 158(49): 1930-1945.

The Hungarian Society of Laboratory Medicine launches a Laboratory Assay Finder after more than a year of preparatory work. The purpose is that all laboratory and clinical specialists can have access to a nationwide availabilty of special clinical laboratory testings. This is achieved by an SQL database that can be managed from an “admin” surface. The selection of various colour coded diagnostic area exemplify individual filters in the database. The requested test can easily be found either by listing the assays or the diagnoses and special search can be executed via PHP. During preliminary discussions the following basic considerations were accepted: the Assay Finder does not contain basic laboratory tests (e.g. bilirubin or prothrombin time) and within the specified fields there may also be tests that are not listed. The reason behind is that several tests are only worth doing in panels or blocks like studying CD markers in leukemias or carrying out an immunofixation after protein electrophoresis. Also tests like antithrombin III activity or FSH and LH were not separately uploaded only as parts of the complete thrombophilia or infertility panels. By providing a login and password we would like to make this webpage accessible to all colleagues. Orv. Hetil., 2011, 152, 2056–2062.

It is known that hyperhomocystinemia is an independent risk factor for development of atherosclerosis. In end stage renal disease the frequency of hyperhomocystinemia is much greater than in normal populations.In this study homocystein (Hcy), folic acid and vitamin B12 concentrations were determined in 125 chronic renal failure patients being on folic acid supplementation (3 mg/day). In 107 patients the frequency of C667T polymorphism of methylene tetrahyrofolate reductase (MTHFR) was also determined. The relationships between these parameters were also studied.It was found that in these patients who are under continuous folic acid supplementation the mean level of homocysteine was 16.8 +/- 7.2 mumol/L, a value considerably lower than the homocysteine concentration reported for non-supplemented patients. The elevation of homocysteine concentrations was independent of gender, time spent in renal replacement therapy, and the type of renal replacement therapy (hemodialysis: 17.6 +/- 12.6; hemodiafiltration: 16.6 +/- 12.9 mumol/L). Data showed an inverse relation between plasma homocysteine concentrations and the concentrations of folic acid and vitamin B12. Moderately severe hyperhomocystinemia (Hcy20 mumol/L) was found in about 30% of patients. In those the frequency of patients for homozygous T677 allele of MTHFR was about 25-30%. However, in all ESRD patients the frequency of the homozygotes was the same then in the normal population. Homocysteine plasma levels correlated with MTHFR polymorphism: in the wild type group Hcy was 14 +/- 7 mumol/L, in the heterozygous group was 17.2 +/- 6.2 mumol/L, and in the homozygous group was 21 +/- 19 mumol/L.Long-term folic acid supplementation decreased the homocysteine level in end stage renal disease patients. However, in folic acid resistant group, who were in 30% homozygotes for C667T of MTHFR (suggesting that homocysteine-methionine remethylation cycle is disturbed), instead of the administration of folic acid, methylene tetrahydrofolate supplementation might be considered.