Congenital protein C or S deficiency

Causes and Risks:
Congenital protein C or S deficiency is an inherited disorder that causes abnormal blood clotting. Normal blood coagulation is a complex process involving as many as 20 different plasma proteins which are known as blood coagulation factors. A series of complex chemical reactions using these factors takes place very rapidly to form an insoluble protein called fibrin that stops bleeding . When certain coagulation factors are deficient or missing, the chain reaction does not take place normally. In this disorder, an increased risk of blood clot formation called thrombosis is present. Risk factors are an individual or family history of recurrent blood clots in the veins, or symptoms of venous blood clots that start early in life, and the use of warfarin type anticoagulants. There are different types of genetic transmission of this disease. Heterozygous protein C deficiency occurs in approximately 1 in 300 members of the general population. Protein S deficiency occurs in 1 out of 20,000 people. Approximately 50% of people with heterozygous protein S deficiency will experience venous thromboembolic disease by 27 years of age.

Prevention:
If the disorder is diagnosed precautions may be taken to avoid thrombus formation in high-risk situations that promote stasis of the blood in the veins. This occurs with prolonged bed rest usually as a result of an illness, surgery or hospitalization.

Symptoms:
  • pain or tenderness in extremity or affected area
  • redness or swelling in affected area

Note: Symptoms, if present, will be the same as for deep venous thrombosis .

Signs and Tests:



Treatment:
Treatment for deep venous thrombosis includes therapy with heparin and warfarin. If thrombosis occurs frequently, preventive doses of warfarin can be given. There is no treatment for the protein C or S deficiency.

Prognosis:
The outcome is usually good with treatment, but recurrences can occur.

Complications:



Call Your Healthcare Provider:
Call your health care provider if symptoms develop that are suggestive of congenital protein C or S deficiency.