This study sought to evaluate a new method that uses injection of fibrin sealant under simultaneous balloon occlusion for the treatment of postinterventional access site bleeding complications. With the rising complexity of interventional procedures, iatrogenic false aneurysms and active bleeding has become more common. In general, these complications are associated with increased morbidity and mortality, especially if surgical repair is required. Although high success rates are reported for ultrasound‐guided compression and ultrasound‐guided thrombin injection, these methods are not always feasible. All procedures of fibrin sealant injection under simultaneous balloon occlusion for the treatment of postinterventional access site bleeding complications or pseudoaneurysm were prospectively collected. Additional data were retrospectively obtained and analyzed for all patients treated by this new method. In total, 53 patients were included from 2018 to 2021. Most of the access site complications were related to transcatheter aortic valve replacement (40%) or percutaneous coronary intervention (21%), but also to a wide variety of other procedures. Of the 53 patients, 30 had to be treated for false aneurysms and 23 for active bleeding. A high primary success rate of 94% was achieved. Recurrences of false aneurysms occurred in six patients, of which only one needed open surgical repair. Regarding complications, two peripheral embolisms, thereof one requiring additional stent implantation occurred. Balloon‐assisted thrombin injection seems to be feasible and safe. It provides a new alternative to prevent surgery for patients where common techniques are unavailable or have failed.

Introduction Prior to percutaneous coronary intervention (PCI) guidelines recommend that patients with ST- elevation myocardial infarction (STEMI) receive dual antiplatelet therapy (DAPT) consisting of P2Y12 inhibition and acetylsalicylic acid (aspirin). However, in rare occasions, patients admitted with STEMI as preliminary diagnosis require acute thoracic surgery and oral P2Y12 inhibitors increases the bleeding risk over several hours. Cangrelor is an intravenous reversible P2Y12 antagonist with normal platelet function returning within 60 minutes and might therefore be an attractive alternative to oral P2Y12 inhibition.Aim Firstly, to quantify P2Y12 pre-treatment with ticagrelor in patients undergoing acute thoracic surgery and the mortality and morbidity rate associated with DAPT prior to surgery. Secondly, to estimate cost-benefit differences between cangrelor and ticagrelor pre-treatment.Material and Methods A descriptive cohort study using retrospective data. The inclusion criteria were patients undergoing acute thoracic surgery (≤ 24 hours) between January 2015 and December 2017, in the catchment area of Örebro University Hospital. Patients were stratified into groups depending on whether they had received pre-treatment with DAPT or not before surgery. Statistical analyses were made in SPSS and Excel.Results A total of 50 patients were included. 8 patients received DAPT before surgery. There was no mortality in patients receiving DAPT but TIMI major bleeding was more frequent compared to the group with no pre-treatment. The DAPT group required numerically more units of platelets and plasma, however the result was not significant. Direct treatment costs for ticagrelor was 20.14 SEK (the dosage is 2 tablets) and cangrelor was 3 059 SEK.Conclusions DAPT pre-treatment with ticagrelor was not associated with increased mortality but TIMI major bleeding was more frequent compared to the group with no pre-treatment. Direct treatment costs with cangrelor was higher compared to ticagrelor treatment. Further studies, with larger study samples, are needed to investigate complications associated with P2Y12 pre-treatment in patients undergoing acute thoracic surgery.

Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient’s platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis. Conclusions: The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion. / Hintergrund: Das Bernard-Soulier-Syndrom (BSS) ist eine angeborene Blutungsstörung, die mit Thrombozytopenie, Thrombozytopathie und verminderter Thrombozytenadhäsion assoziiert ist. BSS wird durch genetische Veränderungen des Glykoprotein(GP)-Ib/IX/V-Komplexes verursacht. Methoden: Wir berichten über einen Patienten mit typischem BSS-Phänotyp (Thrombozytopenie mit Riesenthrombozyten, Blutungssymptome). Dennoch wurde die Diagnose BSS erst im Alter von 39 Jahren gestellt. Ergebnisse: Die Durchflusszytometrie der Thrombozyten des Patienten ergab eine fehlende Oberflächenexpression des GPIb/IX/V-Rezeptors. Zusätzlich zeigten Immunfluoreszenz-Analysen der Thrombozyten eine nur sehr schwache Anfärbung von GPIX. In der molekulargenetischen Analyse wurde eine noch nicht bekannte homozygote Deletion von 11 Nukleotiden (beginnend an Position 1644 im GPIX-Gen) identifiziert. Schlussfolgerungen: Diese neue Deletion von 11 Nukleotiden (g.1644_1654del11) wurde als Ursache für die vermehrte Blutungsneigung bei dem BSS-Patienten identifiziert. Von der homozygoten Deletion betroffen sind die letzten 4 Nukleotide der Kozak-Sequenz sowie das Startkodon und weitere 4 Nukleotide des kodierenden Bereichs. Die Kozak-Sequenz ist unerlässlich für die Initiation der Translation in der Proteinbiosynthese, so dass die bei dem Patienten nachgewiesene Deletion die Synthese des funktionellen GPIX-Proteins verhindert. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient’s platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis. Conclusions: The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion. / Hintergrund: Das Bernard-Soulier-Syndrom (BSS) ist eine angeborene Blutungsstörung, die mit Thrombozytopenie, Thrombozytopathie und verminderter Thrombozytenadhäsion assoziiert ist. BSS wird durch genetische Veränderungen des Glykoprotein(GP)-Ib/IX/V-Komplexes verursacht. Methoden: Wir berichten über einen Patienten mit typischem BSS-Phänotyp (Thrombozytopenie mit Riesenthrombozyten, Blutungssymptome). Dennoch wurde die Diagnose BSS erst im Alter von 39 Jahren gestellt. Ergebnisse: Die Durchflusszytometrie der Thrombozyten des Patienten ergab eine fehlende Oberflächenexpression des GPIb/IX/V-Rezeptors. Zusätzlich zeigten Immunfluoreszenz-Analysen der Thrombozyten eine nur sehr schwache Anfärbung von GPIX. In der molekulargenetischen Analyse wurde eine noch nicht bekannte homozygote Deletion von 11 Nukleotiden (beginnend an Position 1644 im GPIX-Gen) identifiziert. Schlussfolgerungen: Diese neue Deletion von 11 Nukleotiden (g.1644_1654del11) wurde als Ursache für die vermehrte Blutungsneigung bei dem BSS-Patienten identifiziert. Von der homozygoten Deletion betroffen sind die letzten 4 Nukleotide der Kozak-Sequenz sowie das Startkodon und weitere 4 Nukleotide des kodierenden Bereichs. Die Kozak-Sequenz ist unerlässlich für die Initiation der Translation in der Proteinbiosynthese, so dass die bei dem Patienten nachgewiesene Deletion die Synthese des funktionellen GPIX-Proteins verhindert. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.