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Congenital protein C or S deficiency

Definition

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.

Alternative Names

Protein S deficiency; Protein C deficiency

Causes, incidence, and risk factors

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

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:

  • Pain or tenderness in the affected area
  • Redness or swelling in the affected area

Signs and tests

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

Blood-thinning drugs (heparin and warfarin) are used to treat and prevent blood clots.

Support Groups

Expectations (prognosis)

The outcome is usually good with treatment, but symptoms may return.

Complications

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.

Calling your health care provider

Call your health care provider if you have symptoms of clotting in a vein (such as swelling and redness of the leg).

Prevention

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, hospital stay, or prolonged reduced activity such as long airplane or car trips.

References

Schafer AI. Thrombotic disorders: hypercoagulable states. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 182.

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    Review Date: 3/28/2010

    Review By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; 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.

    The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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