Immune Tolerance Induction (ITI) with a pdFVIII/VWF Concentrate (octanate) in 100 Patients in the Observational ITI (ObsITI) Study.

 Immune tolerance induction (ITI) with repeated factor VIII (FVIII) administration is the only strategy proven to eradicate inhibitors. The observational ITI study is evaluating ITI with a range of FVIII products.  This subgroup analysis reports prospective interim data for patients treated with a plasma-derived, von Willebrand factor-stabilized FVIII concentrate (pdFVIII/VWF, octanate).

Incidence of inhibitor development in PUPs with severe Haemophilia A in the CEE region between 2005 and 2015.

Introduction: This study analyses real-world data on 144 previously untreated patients (PUPs) with severe Haemophilia A, from seven countries in Central and Eastern Europe (CEE: Bulgaria, Croatia, Czech Republic, Hungary, Latvia, Serbia, and Slovenia), over a period of 11 years. It analyses the risk factors associated with development of inhibitors to factor VIII concentrates.

Methods: Cox proportional hazard models were used to estimate the hazard risk of factors possibly influencing the development of inhibitors.

von Willebrand factor alloantibodies in type 3 von Willebrand disease.

: The development of neutralizing antibodies is a rare complication of von Willebrand disease treatment. In major surgical procedures for severe forms of the disease, the recognition of ineffective therapy and alternative treatment protocols are lifesaving. We report the case of a 6-year-old girl with type 3 von Willebrand disease in whom inhibitors were sought due to ineffective haemostasis together with lower than expected von Willebrand factor (VWF) recoveries after a surgical procedure.

Low-dose continuous infusion of factor VIII in patients with haemophilia A.

Background: Patients with haemophilia A (HA) or B (HB) can be given prophylactic or on-demand treatment administered by continuous infusion or bolus injections of factor VIII (FVIII) or IX (FIX). In this study we evaluated the efficacy and safety of low-dose continuous infusion of FVIII or FIX.

Material And Methods: We studied all eligible patients with HA or HB treated with continuous infusion of factor concentrates over an 18-year period in a single Slovenian Haemophilia Comprehensive Care Centre.

Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Background: Heterogeneous bleeding phenotypes are observed in haemophilia A patients with the same mutation in the F8 gene. Specific mutations in the A2 domain of factor VIII are associated with mild haemophilia and a higher risk of inhibitor development. Double mutations in mild haemophilia A are rarely reported.

De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy.

We report an unusual case of a patient with two combined X-linked diseases, severe hemophilia A (HA) and Duchenne muscular dystrophy (DMD), of which only HA was hereditary. There was no family history of muscular dystrophy. Genetic analysis revealed that HA was caused by the hereditary coagulation factor VIII (F8) intron 22 inversion (distal/type I inversion), whereas DMD was caused by a de novo deletion in the dystrophin gene.

Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia.

Background: Gaucher disease type 1 (GD1) was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed. We describe the management of eight GD1 patients in Slovenia who were diagnosed between the ages of 2 and 15 years.

Methods: Patients were individually assessed to establish initial enzyme doses and monitored frequently to determine the effects of long-term enzyme dose regimens.

Radiosynoviorthesis for treatment of hemophilic hemarthrosis--Slovenian experience.

Unlabelled: Radiosynoviorthesis is a well-accepted method for the treatment of recurrent hemarthrosis in hemophilic patients.

Objectives: The aims of our study were to evaluate the effectiveness of radiosynoviorthesis in patients suffering from hemophilic hemarthrosis, to determine the effect of treatment on antihemophilic factor consumption, and to assess the patient's satisfaction with radiosynoviorthesis.

Methods: Between 2001 and 2003, 26 radiosynoviortheses were done in 21 hemophilic patients; in 4 patients the treatment was repeated, and in 1 patient two joints were treated.