Congenital protein C or S deficiency

Causes

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

Exams and Tests

Laboratory tests will be done to check for proteins C and S.

Treatment

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

Outlook (Prognosis)

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

Possible Complications

• Childhood stroke
• More than one pregnancy loss (recurrent miscarriage)
• Recurrent clots in the veins
• Pulmonary embolism

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

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.

Alternative Names

Protein S deficiency; Protein C deficiency

References

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: 2/8/2012

Updated by: Todd Gersten, MD, Hematology/Oncology, Palm Beach Cancer Institute, West Palm Beach, FL. Review provided by VeriMed Healthcare Network. Also reviewed by Linda J. Vorvick, MD, Medical Director and Director of Didactic Curriculum, MEDEX Northwest Division of Physician Assistant Studies, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington; David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.