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Related Experiment Videos

Protein S deficiency: imaging findings

J P Earls1, H P McAdams, E Colon

  • 1Department of Radiology, Walter Reed Army Medical Center, Washington, DC 20307-5001.

AJR. American Journal of Roentgenology
|December 1, 1993
PubMed
Summary

Protein S deficiency is an inherited clotting disorder causing recurrent blood clots in young adults. Early diagnosis is crucial for managing venous and arterial thrombosis risks.

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Area of Science:

  • Hematology
  • Genetics
  • Radiology

Background:

  • Protein S deficiency is an autosomal-dominant inherited coagulation disorder.
  • It is associated with spontaneous and recurrent venous thrombosis, particularly in young adults.
  • Approximately 5% of young patients (<45 years) with lower extremity deep venous thrombosis have protein S deficiency.

Purpose of the Study:

  • To highlight the importance of considering protein S deficiency in the differential diagnosis of unexplained thrombosis in young patients.
  • To illustrate the spectrum of imaging findings associated with protein S deficiency.

Main Methods:

  • This is a pictorial essay.
  • It reviews imaging findings in patients diagnosed with protein S deficiency.

Main Results:

  • Protein S deficiency commonly presents with recurrent deep venous thrombosis and pulmonary embolism in young adulthood.
  • Thrombosis can also affect splanchnic and cerebral veins.
  • Arterial thrombosis, though rare, may occur in the cerebral circulation.

Conclusions:

  • Radiologists should consider protein S deficiency in young patients with unexplained thrombosis.
  • Recognizing imaging patterns aids in diagnosing this inherited coagulation disorder.

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