Congenital protein C or S deficiency (patient information)

For the WikiDoc page on Protein C deficiency, click here

For the WikiDoc page on Protein S deficiency, click here

Congenital protein C or S deficiency (patient information)
ICD-9	289.81
OMIM	176860
DiseasesDB	10807
MedlinePlus	000559
MeSH	D020151

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Editor-in-Chief: C. Michael Gibson, M.S.,M.D. [1] Phone:617-632-7753; Associate Editor-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S.

Overview

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.

What are the symptoms of Protein C or S deficiency?

• 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

What causes Protein C or S deficiency?

• 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.

When to seek urgent medical care?

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

Diagnosis

• 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:

• Bleeding time
• Partial thromboplastin time
• Prothrombin time
• Thrombin time

Treatment options

Blood thinners (heparin and warfarin) are used to treat and prevent blood clots.

Where to find medical care for Protein C or S deficiency?

Medical care for Protein C or S deficiency can be found here.

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.

What to expect (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.

Source

http://www.nlm.nih.gov/medlineplus/ency/article/000559.htm

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