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How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant.

Journal of thrombosis and haemostasis : JTH - 1 May 2025

Bravo-Pérez Carlos, Corral Javier, Orlando Christelle, Ignjatovic Vera, Ilonczai Péter, Bereczky Zsuzsanna

Abstract excerpt

BACKGROUND: Antithrombin deficiency represents one of the most severe inherited thrombophilias. Albeit a rare disorder, available knowledge suggests that antithrombin deficiency is underestimated due to the limitations of current diagnostic algorithms. The high clinical variability of this patient population may be another cause of underdiagnosis. Heterozygous type I (quantitative) variants are normally...

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PMID: 39933654
DOI: 10.1016/j.jtha.2025.01.015

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