Protein C Deficiency - Causes, Symptoms, Diagnosis, and Treatment

What Is Protein C Deficiency?

Protein C deficiency is a rare disease marked by a decrease in the activity of protein C, a plasma serine protease engaged in blood coagulation control. The activated protein C (APC), its active form, has significant anticoagulant action. Protein C deficiency is an inability to control coagulation, which results in excessive blood clot formation (thrombophilia).

Protein C is produced by the liver and is detected in trace amounts in the bloodstream. However, it is latent until vitamin K activates it. It performs several activities. Its primary job is to keep blood from clotting. Protein C deficiency increases the likelihood of blood clotting compared to normal levels. Clotting occurs as a result of coagulation. Coagulation requires a specific number of proteins and blood cells called platelets to work properly. Protein C levels higher than usual are unrelated to any existing health issues. However, it may cause increased bleeding. Protein C insufficiency is prevalent in both men and women and across different cultural groups. The severity of protein C deficiency varies. Many individuals with mild protein C insufficiency do not develop dangerous blood clots.

What Are the Types of Protein C Deficiency?

Protein C deficiency is classified into type I or type II.

• Type 1 Protein C Deficiency- It is caused by a deficiency of normal protein C.

• Type 2 Protein C Deficiency- These are induced by an improperly functioning protein.

What Are the Causes of Protein C Deficiency?

Protein C deficiency can be inherited, acquired, or developed due to various disorders over time. Protein C insufficiency is inherited or induced by genetics owing to abnormalities in a single gene known as the PROC gene. Individuals with a family history of protein C deficiency are more prone to developing it. It is more likely to develop if one of the parents is protein C deficient. The number of mutations in the PROC gene raises the chance of a more severe ailment. Protein C levels can be reduced due to a variety of factors, including:

• Vitamin K deficiency.

• Liver disease.

• The use of Warfarin and other blood thinners.

• Pregnancy or labor complications.

• Tumors with extensive metastatic spread.

• The newborn's respiratory difficulties.

• Gastrointestinal issues.

• Blood clots.

• Severe ailment, such as infection.

• Progressed Intravascular coagulation.

• Blood infections.

• Surgical removal of the small intestine.

• Other drugs or oral contraceptives.

What Are the Signs and Symptoms of Protein C Deficiency?

Protein C deficiency may not cause clotting problems or other symptoms in some people. This insufficiency manifests itself most severely immediately after birth. In some cases, a lack of protein C might result in excessive blood clotting. Individuals with deficient protein C levels may not display symptoms until adolescence. They are, however, just as likely to have blood clots and blockages as someone who developed symptoms earlier.

• Deep Vein Thrombosis (DVT)- It is caused by clots in the leg veins, which can cause discomfort, swelling, discoloration, and soreness. The size of the clot generally determines the severity. If the DVT is not in a leg, patients may not notice any symptoms.

• Pulmonary Embolism- This causes chest discomfort, fever, disorientation, coughing, and shortness of breath.

• Neonatal Purpura- It is a disorder that affects newborns. Symptoms usually begin within 12 hours of delivery and include skin lesions that are dark red and progress to purple-black.

• Thrombophlebitis- A disorder that produces inflammation and redness along the afflicted vein.

• Bleeding- Abnormal bleeding into the affected regions.

How to Diagnose Protein C Deficiency?

Protein C deficiency is diagnosed to determine if it is acquired. The following are the methods involved in diagnosing the deficiency.

• Personal or Family History- To determine the kind and nature of the deficiency, a complete family history will be taken.

• Blood Tests- It will identify the levels of protein C activity and protein C itself. It is done by drawing blood from the veins. In some cases, testing family members can assist in determining whether the illness is genetic.

• Genetic Testing- This test is done to detect gene mutation in the PROC gene.

How to Treat Protein C Deficiency?

People who are deficient in protein C may plan to take further action. This may include changing medications, such as discontinuing estrogen treatment and avoiding contraceptives containing estrogen and progestin. Treatment is determined by the kind of protein C deficiency and the severity of the symptoms. Typically patients do not require therapy unless they are undergoing surgery, pregnant, have experienced trauma (such as a car accident), or are physically inactive.

Protein C deficiency can be treated using blood thinners, often known as anticoagulants. By reducing blood clotting in blood arteries, these drugs reduce the risk of blood clot formation. In addition, the medicine prevents new clots from forming and does not dissolve existing ones. Heparin, which is injected, and Warfarin, which is taken orally, are two of the most prominent anticoagulants. A treatment strategy can include injecting heparin into the skin for the first week, followed by an oral drug afterward.

What Are the Complications of Protein C Deficiency?

Protein C deficiency may usually be discovered after other problems and blood clots have occurred. However, protein C deficiency consequences might be severe, necessitating immediate treatment. These complications include:

• Warfarin therapy has resulted in widespread thrombosis. First, painful crimson or purple lesions appear on the body, arms, or legs shortly after taking Warfarin. Without treatment, this can cause skin and other tissues to die.

• Deep vein thrombosis (blood clots) can break off and lodge in the lung (pulmonary embolism).

• Risk of clots during pregnancy.

• Purpura fulminans (an acute purpuric rash characterized by microvascular coagulation, resulting in purpuric lesions and skin necrosis).

• Newborns who require fresh frozen plasma treatment due to fluid overload.

What Are the Ways to Prevent Protein C Deficiency?

Protein C deficiency cannot be prevented, but there are a few ways they can reduce the risk of blood clots. These include the following:

• Regular exercise.

• Taking the medications at the correct time.

• Wear compression socks if prescribed by the doctor.

• Standing or sitting for a longer duration should be avoided.

• Drink lots of water throughout the day and keep hydrated.

• Shedding pounds and remaining active.

• Cessation of smoking and consumption of alcohol.

Conclusion

Protein C deficiency is a genetic or acquired disease that increases the risk of thrombosis. Protein C deficiency is unusual. Many individuals with protein C deficiency do not have any apparent adverse effects and do not need treatment. If needed, it mainly includes changing the medications, and protein C is supplemented with a synthetic concentrate. If clotting is a concern, there are various strategies to manage and avoid it, including taking the correct drugs, living a healthy lifestyle, and being proactive about the condition. If there is inadequate protein C in the body, a person is at higher risk for developing a potentially lethal blood clot, such as deep vein thrombosis (DVT) or pulmonary embolism. In addition to protein C deficiency, having another genetic blood clotting condition can increase the risk of irregular blood clotting.