Rare cases of co-inherited bleeding and thrombotic disorders offer a unique window into the complexity of hemostatic regulation. We report one such case-severe hemophilia A coexisting with congenital antithrombin (AT) deficiency-which challenges traditional diagnostic expectations and offers insight into both natural compensatory mechanisms and the rationale behind emerging rebalancing therapies such as Fitusiran. We believe this case underscores the importance of integrating coagulation, global hemostasis and genetic assessments in hemophilia care, and invites the field to consider how opposing hemostatic defects may reshape both clinical expression and treatment paradigms.

Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing / Torrieri, L., Ligia, S., Baldacci, E., Mormile, R., Sorella, S., Ciciani, R., Chistolini, A., Biglietto, M., Zhdanovskaya, N., Delli Paoli, A., Tirnetta, A., Lorenzon, M., Santoro, C.. - In: HAEMOPHILIA. - ISSN 1351-8216. - (2026). [10.1111/hae.70291]

Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing

Lorenzo Torrieri
Primo
Writing – Original Draft Preparation
;
Silvio Ligia;Erminia Baldacci;Rosaria Mormile;Silvia Sorella;Roberta Ciciani;Antonio Chistolini;Mario Biglietto;Nadezda Zhdanovskaya;Adele Delli Paoli;Alessia Tirnetta;Martina Lorenzon;Cristina Santoro
Ultimo
2026

Abstract

Rare cases of co-inherited bleeding and thrombotic disorders offer a unique window into the complexity of hemostatic regulation. We report one such case-severe hemophilia A coexisting with congenital antithrombin (AT) deficiency-which challenges traditional diagnostic expectations and offers insight into both natural compensatory mechanisms and the rationale behind emerging rebalancing therapies such as Fitusiran. We believe this case underscores the importance of integrating coagulation, global hemostasis and genetic assessments in hemophilia care, and invites the field to consider how opposing hemostatic defects may reshape both clinical expression and treatment paradigms.
2026
severe hemophilia a; antithrombin deficiency; rebalancing
01 Pubblicazione su rivista::01i Case report
Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing / Torrieri, L., Ligia, S., Baldacci, E., Mormile, R., Sorella, S., Ciciani, R., Chistolini, A., Biglietto, M., Zhdanovskaya, N., Delli Paoli, A., Tirnetta, A., Lorenzon, M., Santoro, C.. - In: HAEMOPHILIA. - ISSN 1351-8216. - (2026). [10.1111/hae.70291]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1769362
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