Hamostaseologie 2025; 45(S 01): S111
DOI: 10.1055/s-0044-1801721
Abstracts
Topics
T-13 Venous thromboembolism

Familial Protein S deficiency with severe venous thromboembolism (VTE)

Authors

  • I Vaide

    1   Tartu University, Department of Hemato-Oncology, Institute of Clinical Medicine, Tallinn, Estonia
    2   Pärnu Hospital, Department of Internal Medicine, Pärnu, Estonia

  • M Pikta

    5   North Estonian Medical Centre, Coagulation Laboratory, Tallinn, Estonia

  • C E Ursu

    4   Romanian Academy of Medical Sciences, Onco-Hematology Research Unit, Timisoara, Romania

  • E Laane

    1   Tartu University, Department of Hemato-Oncology, Institute of Clinical Medicine, Tallinn, Estonia
    3   Kuressaare Hospital, Department of Internal Medicine, Kuressaare, Estonia
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Introduction: Familial congenital Protein S deficiency is a rare disorder characterized by reduced activity of Protein S, with a prevalence ranging from 0.03% to 0.13%. Mutations in the PROS1 gene typically cause the deficiency. A lack of Protein S leads to inadequate control of coagulation, resulting in an increased risk of blood clots and venous thromboembolism (VTE). Approximately half of the individuals with this deficiency become symptomatic before the age of 55, with typical clinical manifestations including venous thrombotic events, deep vein thrombosis, and pulmonary emboli. We present a case of a family affected by VTE and inherited Protein S deficiency.

Method: We reviewed the medical records of a family diagnosed with Protein S deficiency at our hospital.

Results: In 2018, a 64-year-old woman sought a haematology consultation due to VTE following gynaecological surgery. Two decades earlier, her son had been diagnosed with Protein S deficiency at age 17 during an episode of VTE and pulmonary embolism. This prompted an investigation of the entire family, which included a daughter diagnosed with cerebral palsy as a neonate. The family also had another healthy daughter. Mother, 64 years-old PROS1 heterozygosity, free Protein S level 20% (N:70-145%) - experienced iliofemoral VTE post-surgery at age 64; currently on prophylactic therapy with rivaroxaban. Son, 35 years-old PROS1 heterozygosity, free Protein S level 28%, - experienced iliofemoral VTE along with pulmonary thromboembolism at age 16; currently on prophylactic therapy with rivaroxaban. Daughter, 43 years-old PROS1 heterozygosity, free Protein S level 15% - diagnosed with cerebral palsy at birth. Daughter 40 years-old PROS1 heterozygosity, free Protein S level 15% - clinically asymptomatic.

Conclusion: In cases of familial thrombosis, we recommend comprehensive coagulation work-ups and genetic testing. This can help family members understand their risks for thrombosis and guide preventive measures against thrombotic complications throughout their lives.



Publikationsverlauf

Artikel online veröffentlicht:
13. Februar 2025

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