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Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism

Weijia Xie1, Zhenjie Liu2, Bing Chen2

  • 1Department of General Surgery, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

Journal of Vascular Surgery Cases and Innovative Techniques
|January 20, 2018
PubMed

Insights

Hereditary protein C deficiency, a genetic disorder, significantly increases the risk of venous thromboembolism (VTE). This case highlights PROC gene mutations causing recurrent VTE, suggesting long-term anticoagulation is vital.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Hereditary protein C (PC) deficiency is an autosomal dominant disorder.
  • It is strongly associated with an increased risk of venous thromboembolism (VTE).

Observation:

  • A case of inherited PC deficiency presenting with recurrent deep venous thrombosis (DVT) is described.
  • Genetic testing identified two specific mutations in the PROC gene: c.1152C>G (p.N384K) and c.1207G>T (p.G403W).

Findings:

  • The identified PROC gene mutations are linked to the patient's hereditary PC deficiency.
  • This genetic defect is implicated as a cause of recurrent VTE in this case.

Implications:

  • The findings suggest that inherited PC deficiency due to PROC mutations can lead to recurrent VTE.
  • Long-term anticoagulant therapy may be a necessary treatment strategy for patients with recurrent VTE and hereditary PC deficiency.

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