Management of antithrombin deficiency: an update for clinicians

Area of Science:

• Biochemistry
• Genetics
• Hematology

Background:

• Antithrombin is a key serpin regulating coagulation and acts as an endogenous anticoagulant.
• Congenital antithrombin deficiency is a major inherited thrombophilia with high clinical heterogeneity.
• This deficiency significantly increases the risk of venous thromboembolism.

Purpose of the Study:

• To provide a comprehensive review of congenital antithrombin deficiency.
• To discuss the biology, genetics, diagnosis, and management of this condition.
• To explore future perspectives and address current challenges in understanding and treating this thrombophilia.

Main Methods:

• Literature review covering biology, genetics, diagnosis, and management.
• Analysis of current evidence, primarily from retrospective case series.
• Discussion of clinical heterogeneity and management strategies.

Main Results:

• Congenital antithrombin deficiency necessitates long-term anticoagulation and thromboprophylaxis, particularly during high-risk periods like surgery and pregnancy.
• Antithrombin concentrates are effective for treating and preventing acute venous thrombosis in deficient individuals.
• Evidence is largely based on retrospective data, highlighting the need for further integrated characterization.

Conclusions:

• Integrated functional, biochemical, and molecular characterization is crucial for personalized clinical decisions in managing antithrombin deficiency.
• Hematologists require robust evidence to guide personalized treatment strategies for patients with this severe inherited thrombophilia.
• Further research is needed to overcome limitations of current retrospective data and improve patient outcomes.