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Rare thrombophilic conditions.

Gian Luca Salvagno1, Chiara Pavan2, Giuseppe Lippi1

  • 1Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Annals of Translational Medicine
|October 12, 2018
PubMed
Summary

Thrombophilia, a tendency for blood clots, has many inherited or acquired causes. This review covers rare risk factors for thromboembolic disorders, aiding in diagnosis and management.

Keywords:
Thrombophiliarare diseasethrombosisvenous thromboembolism (VTE)

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Area of Science:

  • Hematology
  • Genetics
  • Clinical Medicine

Background:

  • Thrombophilia is a predisposition to thromboembolic complications, affecting 60-70% of patients with these disorders.
  • Risk factors include defects in coagulation inhibitors, clotting proteins, fibrinolysis, platelet function, and hyperhomocysteinemia.

Purpose of the Study:

  • To provide an overview of epidemiologic, clinical, and laboratory aspects of rare thrombophilic risk factors.
  • To highlight both acquired and inherited rare thrombophilic conditions.

Main Methods:

  • Literature review of epidemiologic, clinical, and laboratory data.
  • Focus on specific rare thrombophilic conditions.

Main Results:

  • Identified numerous acquired and inherited thrombophilic risk factors.
  • Detailed specific conditions such as dysfibrinogenemia, heparin cofactor II deficiency, and others.

Conclusions:

  • Understanding rare thrombophilic risk factors is crucial for diagnosing and managing thromboembolic disorders.
  • Further research into these rare conditions can improve patient outcomes.