Protein C deficiency is a rare genetic disorder which predisposes one to an increased risk of blood clot formation. It is characterized by an increased tendency to form blood clots due to deficiency of functioning protein C which is required to regulate the blood clotting process.

Protein C deficiency belongs to a group of genetic disorders known as inherited thrombophilias. The incidence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population and factor V Leiden is the most common cause of the syndrome. It is related with the raised prevalence of venous thromboembolism, whereas no relationship with arterial thrombotic disease has been found.

Protein C Deficiency:

Protein C is a vitamin-K-dependent anticoagulant protein which is synthesized in the liver and circulated in the plasma. The gene for protein C is situated on chromosome 2 (2q13-14) and appears to be closely associated to the gene for factor IX. Protein C exerts its anticoagulant function after activation to the serine protease, named as activated protein C (aPC). Activated protein C inhibits coagulation (clotting) by inactivating coagulation factors Va and VIIIa, which are necessary for efficient thrombin generation and factor X activation.

Deficiency of protein C is associated with:

• Thrombosis
• Thrombophlebitis
• Deep vein thrombosis
• Pulmonary embolism
• Neonatal purpura fulminans (homozygote based)
• Disseminated intravascular coagulation (DIC)

Deficiency of protein C can cause defects that can take place for a wide variety of reasons in the clotting or anticlotting mechanisms and so present a condition of bleeding problems (such as hemophilia) or clotting problems (such as thrombosis).

Two main types of protein C mutations can cause protein C deficiency:

• Type I: Quantitative defects of protein C (low production or short protein half life)
• Type II: Qualitative defects, in which interaction with other molecules is abnormal and defects in interaction with thrombomodulin, phospholipids, factors V/VIII.

Causes and risk factors of Protein C Deficiency:

Protein C deficiency is a prethrombotic (a thrombus is a clot) disorder which is mostly caused by congenital biochemical defects. Protein C deficiency is of two types. The Type I is resulted when the body does not generate the protein C and Type II is caused when it does not function properly. The complete lack of protein C is caused when both the genes of the person are defective and is known as homozygous deficiency. Type II is caused when only one of the genes is defective and called heterozygous deficiency. Biochemical defects which are present from birth account for 35 to 60 percent of the cases and may result in conditions like deep vein thrombosis, pulmonary embolism, and thrombophlebitis.

The other risk factors are basically lifestyle related issues like obesity, too much use of oral contraceptives, infection, varicose veins, immobility, heart or intravenous surgery, pregnancy or even congestive heart failure.

Symptoms of Protein C Deficiency:

No symptoms of protein C deficiency are seen until it snowballs into something bigger and deadlier. But, the results of protein C deficiency can cause conditions such as deep vein thrombosis, pulmonary embolism, thrombophlebitis, neonatal purpura fulminans, cirrhosis and warfarin-induced skin necrosis. The symptoms of those conditions include:

• Pulmonary embolism:
  • Shortness of breath, rapid pulse, chest pain, coughing, slight fever, dizziness and chest tenderness
• Deep Vein Thrombosis:
  
  • No symptoms are there if the thrombosis is not in a leg. Clots in the leg veins may cause symptoms for example pain, tenderness, swelling, discoloration and ulceration of the skin depending on the site of the clots and how extensive they are.
• Warfarin-induced skin necrosis:
  
  • Infarction in an area of tissue that undergoes necrosis (death), following cessation of blood supply. This rare thrombotic complication takes place in some patients within the first few days of starting warfarin.
• Thrombophlebitis:
  
  • Redness along the affected segment of the vein
• Neonatal purpura fulminans:
  
  • Generalized microvascular thrombosis.
• Cirrhosis:
  
  • Jaundice, edema (fluid collection in the tissue), mental confusion and vomiting of blood.

Protein C deficiency: Complications

Medical complications possibly related with Protein C deficiency include:

• Pulmonary embolism
• Postphlebitic syndrome
• Death due to blood clots
• Cerebral vein thrombosis
• Mesenteric vein thrombosis

Diagnosis of Protein C Deficiency:

Such kind of congenital disorder can be diagnosed thorough analysis of complete medical history and family history of patient followed by a physical examination and laboratory tests. The medical and family history may expose repeated episodes of thromboembolism, a family history of thrombosis and early onset of thromboembolism in patient during childhood and teenage years.

Diagnosis Tests:

• Anemia Tests
• Sleep Apnea Testing
• Thyroid Gland Function Tests
• Adrenal Gland Function Tests
• Calcium Deficiency Tests

Pregnancy loss and miscarriage:

Protein C deficiency in women makes it more like to have problems with blood clotting and may be weakly related with late and recurrent pregnancy loss. The growth and development of the embryo is highly dependent on obtaining oxygen and nutrients from the mother's blood supply and so blood clotting can be an important cause of miscarriage. The relative risk of thrombosis with Protein C deficiency is 7.3% and in pregnancy, the risk is 3-10% antepartum and 7-19% postpartum.

Protein C deficiency has also been reported to be related with both non-recurrent and recurrent first, second and third trimester miscarriages, intrauterine fetal death, intrauterine growth retardation, placental abruption and preeclampsia. Genetic mutations that a woman is born with are the more common cause for increased blood clotting risk. Before 10 weeks of gestation, no significant connection between PC deficiency and pregnancy loss has been established. Protein C deficiency raises the risk of thrombosis during pregnancy and while taking oral contraceptives. For protein C--deficient women with personal or family histories of thrombosis, prophylactic heparin is recommended during pregnancy.

Treatment of Protein C Deficiency:

Depending upon the individual patient's risk of thromboembolic disease, protein C deficient patient is treated. Venous thromboembolism can be treated by giving anticoagulant medications such as heparin, warfarin and low-molecular-weight heparins. Generally, these medications are continued for 3-6 months.

Anticoagulants reduce the clotting ability of the blood and so help to prevent harmful clots from forming in the blood vessels. These medicines are sometimes called as "blood thinners," although they do not really thin the blood. Clots that have already formed will not be dissolved by these medications. But, they may prevent existing clots from becoming larger and causing serious problems.

Patients who have multiple thromboembolic episodes are at high risk of further episodes and may be considered for long-term oral anticoagulation as studies have demonstrated an increased risk of recurrent venous thromboembolic disease. Long-term anticoagulation has risks related with it (approximately a 3% chance per year of having a major hemorrhage, of which about 1/5 are fatal). Initiating long-term anticoagulation is influenced by the patient's overall risk of recurrent thrombosis balanced against the risks related with long-term anticoagulation on an individual basis.

The risk of death from thrombosis is about to happen in homozygote patients. Treatment also requires providing a source of protein C. Blood products such as fresh frozen plasma (FFP) can do this. Additionally, a form of human protein C concentrates has become available in the United States. No studies have compared the efficacy of FFP versus the protein C concentrates in severe protein C deficiency associated thrombosis.

An anticoagulant, warfarin may even become a cause of or induce protein C deficiency in rare cases and also inhibits protein C. It is known as warfarin necrosis and frequently leads to excessive clotting of blood and finally, resulted in haemorrhage.

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