Anti-Plasmin Deficiency, Congenital

Last update 01 Nov 2024

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Synonyms

ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ANTIPLASMIN DEFICIENCY, Alpha-2-plasmin inhibitor deficiency

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Introduction-

100 Clinical Results associated with Anti-Plasmin Deficiency, Congenital

100 Translational Medicine associated with Anti-Plasmin Deficiency, Congenital

0 Patents (Medical) associated with Anti-Plasmin Deficiency, Congenital

Literatures (Medical) associated with Anti-Plasmin Deficiency, Congenital

01 Jul 2024·Haemophilia

Limited value of testing for factor XIII and α2‐antiplasmin deficiency in patients with a bleeding disorder of unknown cause

Article

Author: van Vulpen, Lize F D ; Ariëns, Sander ; Schutgens, Roger E G ; Urbanus, Rolf T ; Huisman, Albert ; Hovinga, Idske C L Kremer ; Fischer, Kathelijn ; van Galen, Karin P M

AbstractIntroductionIn patients with an increased bleeding tendency, extensive diagnostic blood testing is often performed. When results of tier 1 assays of primary haemostasis are normal, protocols recommend additional testing to rule out rare disorders including coagulation factor XIII (FXIII) and α2‐antiplasmin (α2AP) deficiency.AimTo evaluate the added diagnostic value of FXIII and α2AP levels in patients with a bleeding disorder of unknown cause (BDUC).MethodsA retrospective monocentre cohort study between August 2011 and August 2023 was conducted. In all patients with bleeding tendencies and normal diagnostic tests for von Willebrand disease and platelet function, FXIII and α2AP were measured.ResultsWe included 158 consecutive patients; mean ISTH‐BAT scores were 8.2 (SD ± 3.7) in children, 6.2 (SD ± 2.1) in men and 10.6 (SD ± 3.3) in women. Median age was 37 (range 5–79) years, 88.6% of patients were female. Patients displayed median FXIII activity of 111% (IQR = 97–131) and median α2AP activity of 112% (IQR = 103–119).Three (1.9%) patients had FXIII levels < 50%, respectively 43%, 45% and 46%. Corresponding ISTH‐BAT scores were 7, 12 and 14. No α2AP levels < 60% was observed. No significant association was found between FXIII levels and ISTH‐BAT scores.ConclusionIn our cohort of BDUC patients, no clinical relevant FXIII deficiencies were detected; absolute values were well above the 30% cutoff considered adequate for normal haemostasis. No α2AP deficiencies were detected. These data suggest that in BDUC patients, measuring FXIII or AP activity is of limited value.

01 May 2024·Research and Practice in Thrombosis and Haemostasis

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

Article

Author: Willems, Sterre P E ; Kruis, Ilmar C ; Schols, Saskia E M ; van Heerde, Waander L ; Saes, Joline L ; Meijer, Karina ; Schoormans, Selene ; Blijlevens, Nicole M A ; den Exter, Paul L ; Cnossen, Marjon H ; van Es, Nick ; Simons, Annet ; Rijpma, Sanna ; Schutgens, Roger E G ; Weiss, Marjan ; Nieuwenhuizen, Laurens

BackgroundRare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict.ObjectivesDescribe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype.MethodsThe Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019. Bleeding scores and blood samples were collected during a single study visit. Coagulation factor levels were measured centrally, and targeted exome analysis was performed on 156 genes involved in thrombosis and hemostasis. Pathogenicity was assigned according to the Association for Clinical Genetic Science guidelines.ResultsRare genetic variants specific to the diagnosed RBD were found in 132 of 156 patients (85%). Of the 214 rare genetic variants identified, 57% (n = 123) were clearly pathogenic, 19% (n = 40) were likely pathogenic, and 24% (n = 51) were variants of unknown significance. No explanatory genetic variants were found in patients with plasminogen activator inhibitor type 1 deficiency or hyperfibrinolysis. A correlation existed between factor activity levels and the presence of a genetic variant in the corresponding gene in patients with rare coagulation factor deficiencies and alpha-2-antiplasmin deficiency. Co-occurrence of multiple genetic variants was present in a quarter of patients, but effect on phenotype remains unclear.ConclusionTargeted exome analysis may offer advantages over single-gene analysis, emphasized by a number of combined deficiencies in this study. Further studies are required to determine the role of co-occurring hemostasis gene variants on the bleeding phenotype in RBDs.

26 Sep 2022·Journal of Basic and Clinical Physiology and Pharmacology

Alpha2-antiplasmin deficiency affects depression and anxiety-like behavior and apoptosis induced by stress in mice

Article

Author: Kanno, Yosuke ; Tsuchida, Kaho ; Hori, Kyoko ; Ozaki, Kei-ichi ; Maruyama, Chihiro ; Asahi, Shiho ; Teramura, Hanako ; Matsuo, Osamu

AbstractObjectivesDepression is a psychiatric disorder that affects about 10% of the world’s population and is accompanied by anxiety. Depression and anxiety are often caused by various stresses. However, the etiology of depression and anxiety remains unknown. It has been reported that alpha2-antiplasmin (α2AP) not only inhibits plasmin but also has various functions such as cytokine production and cell growth. This study aimed to determine the roles of α2AP on the stress-induced depression and anxiety.MethodsWe investigated the mild repeated restraint stress-induced depressive and anxiety-like behavior in the α2AP+/+ and α2AP−/− mice using the social interaction test (SIT), sucrose preference test (SPT), and elevated plus maze (EPM).ResultsThe stresses such as the mild repeated restraint stress suppressed α2AP expression in the hippocampus of mice, and the treatment of fluoxetine (selective serotonin reuptake inhibitor [SSRI]) recovered the stress-caused α2AP suppression. We also showed that α2AP deficiency promoted the mild restraint stress-stimulated depression-like behavior such as social withdrawal and apathy and apoptosis in mice. In contrast, α2AP deficiency attenuated the mild restraint stress induced the anxiety-like behavior in mice.Conclusionsα2AP affects the pathogenesis of depression and anxiety induced by stress.

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Anti-Plasmin Deficiency, Congenital

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