Thrombophilic screening in Turner syndrome

Area of Science:

• Endocrinology
• Hematology
• Genetics

Background:

• Turner syndrome (TS) is associated with an increased risk of venous thromboembolism (VTE).
• Thrombophilic disorders, genetic factors, and hormone replacement therapy (HRT) may influence VTE risk in TS patients.

Purpose of the Study:

• To determine the prevalence of thrombophilic disorders in TS patients.
• To evaluate the association between thrombophilia and genetic features in TS.
• To assess the advisability of thrombophilia screening before HRT in TS patients.

Main Methods:

• Analysis of activated factor VIII:C, fibrinogen, antithrombin, protein C, protein S, activated protein C resistance, and homocysteine in 82 TS patients.
• Genetic investigation for prothrombin G20210A, factor V R506Q, and methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C mutations.

Main Results:

• Prevalence of protein C deficiency (3.70%), protein S deficiency (14.81%), hyperhomocysteinemia (4.87%), and hyperfibrinogenemia (64.2%) were observed.
• Heterozygous mutations for prothrombin G20210A (3.66%) and factor V R506Q (4.88%) were found. MTHFR gene mutations were present in 75.58% of patients (17 homozygous, 45 heterozygous).
• No homozygous mutations were identified in prothrombin or factor V genes.

Conclusions:

• The increased risk of VTE in TS patients is associated with higher prevalence of protein C and S deficiencies, TT genotype mutations, and elevated fibrinogen levels.
• Complete thrombophilia screening is advisable for Turner syndrome patients prior to initiating hormone replacement therapy.