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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.
Insights
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.
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.
Abstract:
Protein S deficiency is an autosomal-dominant inherited disorder of coagulation associated with spontaneous and recurrent venous thrombosis. Approximately 5% of patients with deep venous thrombosis of the lower extremities who are less than 45 years old have a deficiency of protein S. Patients frequently have spontaneous and recurrent deep venous thrombosis and pulmonary embolism during young adulthood. Thrombosis occurs less commonly in the splanchnic and cerebral veins. Arterial thrombosis is rare but is seen in the cerebral circulation. Radiologists should include protein S deficiency in the differential diagnosis of unexplained thrombosis in young patients. This pictorial essay illustrates the range of imaging findings encountered in patients with this disorder.