Key result
Congenital antithrombin deficiency carries a high risk for venous thromboembolism, requiring tailored management due to a lack of controlled trials or large observational studies.
Why the study?
A lack of controlled trials or large observational studies leaves therapeutic decisions for patients with congenital antithrombin deficiency without scientific evidence.
This review discusses the tailored management of patients with hereditary antithrombin deficiency, a rare genetic risk factor for venous thromboembolism, highlighting the lack of large controlled trials to guide therapy.
AT deficiency signals elevated VTE risk warranting vigilance; leaves open subtype-specific management strategies.
Genetic predispositions to venous thromboembolism (VTE) are relatively frequent in the general population and comprise a heterogeneous group of disorders. Whereas the most frequent congenital risk factors for thrombosis only moderately increase the risk, a deficiency in antithrombin (AT), one of the most important natural inhibitors of blood coagulation, carries a higher risk. Congenital AT deficiency is an infrequently encountered genetic risk factor for VTE, and different subtypes vary with regard to their thrombotic risk. Patients with congenital AT deficiency, especially those with quantitative deficiency (type 1), may develop thrombosis early in life and often have a conspicuous family history of first- and second-degree relatives with VTE. Women are particularly affected because of the risk potentiation by combined estrogen/progestogen oral contraceptive use or pregnancy. The lack of controlled trials or even observational studies of large cohorts does not allow therapeutic decisions to be based on scientific evidence. In this review, we will discuss cases with thrombotic manifestations and the tailored management of patients with this congenital thrombosis risk factor.
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Pabinger et al. (2019) conducted a review in Hereditary antithrombin deficiency. Tailored management was evaluated. Congenital antithrombin deficiency carries a high risk for venous thromboembolism, requiring tailored management due to a lack of controlled trials or large observational studies.
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