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Alternative Names Return to topProtein S deficiency; Protein C deficiency
Definition Return to top
Congenital protein C or S deficiency is a lack of proteins C or S in the fluid part of the blood. The proteins are natural substances that help prevent blood clots.
Causes Return to top
Congenital protein C or S deficiency is an inherited disorder, which means it is passed down through families. Congenital means it is present at birth.
The disorder causes abnormal blood clotting.
About 1 out of every 300 people has one normal gene and one faulty gene for protein C deficiency.
Protein S deficiency occurs in about 1 in 20,000 people.
Symptoms Return to top
If you have this condition, you are more likely to develop blood clots. The symptoms are the same as for deep venous thrombosis, and include:
Exams and Tests Return to top
Laboratory tests will be done to check for proteins C and S. If you have this disorder, you will have a lack of protein C or S.
Other tests that may be done include:
Treatment Return to top
Blood-thinning drugs (heparin and warfarin) are used to treat and prevent blood clots.
Outlook (Prognosis) Return to top
The outcome is usually good with treatment, but symptoms may return.
Possible Complications Return to top
In rare cases, using warfarin to thin the blood and prevent clots can cause brief increased clotting and severe skin wounds. Patients are at risk if they are not treated with the blood-thinning drug heparin before taking warfarin.
When to Contact a Medical Professional Return to top
Call your health care provider if you have symptoms of clotting in a vein (such as swelling and redness of the leg).
Prevention Return to top
If your health care provider diagnoses you with this disorder, you should be careful to prevent clots from forming. This can occur when the blood moves slowly in the veins, such as from prolonged bed rest during an illness, surgery, or hospital stay.
References Return to top
Schafer AI. Thrombotic disorders: hypercoagulable states. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 182.Update Date: 11/8/2008 Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.