Protein C Deficiency

Protein C Deficiency

Protein C deficiency is a condition when the body lacks protein C. This condition can cause the blood to clot more easily , which can increase the risk of blockages in the blood vessels.

Protein C is a natural blood thinner in the body. Protein C is usually found in the blood in an inactive state and is only active when the body needs it.

Together with other proteins in the blood, protein C regulates the balance of blood clotting, so that the blood clotting process can be controlled and no blood clots form. In addition, protein C is also thought to have a function to prevent inflammation and protect cells from damage (cytoprotective).

Blood clots that form due to protein C deficiency often occur in slow-flowing blood vessels, namely veins. This condition causes people with protein C deficiency to be more prone to deep vein thrombosis (DVT) .

Types of Protein C Deficiency

There are two types of protein C deficiency, namely:

  • Type 1
    Protein C deficiency type 1 occurs due to a lack of protein C in the blood.
  • Type 2 Type 2
    protein C deficiency occurs due to the activity or work of protein C that is not optimal in the blood clotting system, even though the amount is still normal. Compared with type 1, type 2 deficiency is less common.

Causes of Protein C Deficiency

Protein C deficiency occurs due to genetic changes or mutations that cause abnormal production and function of protein C. This genetic mutation can be passed from parent to child.

Therefore, someone who has a family history of protein C deficiency will be more at risk of suffering from this disease. However, this genetic mutation can also occur by itself, it's just that the cases are less common than inherited genetic mutations.

Usually, someone who does not have a family history of protein C deficiency, can experience this disease if they have trigger factors, such as:

  • Suffer from vitamin K deficiency
  • Suffering from heart failure
  • Have a severe infection, such as meningococcal septicemia
  • Suffering from cancer that has spread (metastasized)
  • Experiencing DIC ( disseminated intravascular coagulation ), which is a condition in which blood clots spread throughout the body and bleeding at the same time
  • Undergoing chemotherapy
  • Undergo a bone marrow cell transplant ( stem cell )
  • Taking blood-thinning medications, such as warfarin

Symptoms of Protein C Deficiency

Generally, protein C deficiency does not cause significant symptoms (asymptomatic) until blood clots occur . However, when a blood clot has occurred, this condition can cause a variety of symptoms, including:

  • Deep vein thrombosis (DVT)
    DVT, also known as deep vein thrombosis, is the formation of blood clots in the deep veins. If a blood clot occurs in a vein in the leg, symptoms can appear in the form of swelling, pain, discoloration, and hardening in the leg area where the blood clot is.
  • Pulmonary
    embolism Pulmonary embolism occurs due to blood clots in the loose limbs and then blocking the pulmonary arteries causing lung tissue to malfunction. Symptoms of a pulmonary embolism can include shortness of breath, chest pain, cough, fever and dizziness.
  • Thrombophlebitis
    Thrombophlebitis occurs when a blood clot triggers inflammation in the clotted vein. Symptoms can include swelling, redness, pain, and a warm sensation in the area where the blood clot is forming.
  • Fulminant
    purpura Fulminant purpura occurs due to the formation of blood clots in small blood vessels throughout the body which causes blockage of blood flow and tissue death (necrosis). A common symptom of fulminant purpura is a dark purple bruise on the skin where the blood flow is blocked. Fulminant purpura usually occurs in children. When it occurs in newborns, this condition is called neonatal fulminant purpura.

When to see a doctor

Check with your doctor if you or your child experience the above symptoms, especially if the symptoms appear suddenly.

For pregnant women who have risk factors for protein C deficiency, a doctor's examination regarding this condition needs to be done regularly. This aims to plan a delivery process that is safe for the mother and fetus. The reason is, protein C deficiency can increase the risk of miscarriage in the early and late pregnancy.

Diagnosis of Protein C Deficiency

Diagnosis of protein C deficiency is based on the symptoms experienced, as well as the patient's and family's medical history. The diagnosis process is then followed by a thorough physical examination.

In order to confirm the diagnosis, generally follow-up examinations in the form of blood tests are carried out which include:

  • Immunological
    test This test is performed to determine the amount of protein C in the blood by using certain antibody reactions. Generally, infants and toddlers have a lower protein C content than adults.
  • Protein C function
    test This test is done to check the activity of protein C in the blood.

Keep in mind that the results of both tests can change if the patient is taking the blood thinner warfarin . Therefore, for patients who will undergo a blood test to detect protein C, they will be asked to stop taking the drug for a few days.

In addition, the protein C detection test can also be carried out several times to provide more accurate results.

Protein C . Deficiency Treatment

Treatment of protein C deficiency aims to treat blood clots that occur. Treatment can also be done as a preventive measure in patients who are at risk of developing blood clots, such as patients who have sepsis, are pregnant, or are about to undergo surgery.

To treat protein C deficiency, a blood consultant internal medicine doctor (KHOM) can provide anticoagulant drugs , such as:

  • Heparin
  • warfarin
  • Edoxaban
  • Enoxaparin
  • Fondaparinux
  • Dalteparin
  • Dabigatran
  • Rivaroxaban
  • Apixaban

Apart from being given anticoagulant drugs, patients can also be given additional protein C to increase the protein C content in the blood. This additional protein C can be sourced from pure protein C in concentrate form or in combination with other proteins derived from fresh frozen plasma (FFP) blood transfusions .

For patients with neonatal fulminant purpura, it is necessary to give protein C immediately. Neonatal fulminant purpura patients will be given protein C in concentrate form to increase the protein C content in the blood.

After the protein C content returns to normal, the patient can be given anticoagulant drugs to prevent the occurrence of blood clots again. If needed, the patient can be given additional protein C again at any time. As a permanent solution, the patient can also undergo a liver transplant.

Complications of Protein C Deficiency

Some of the complications that may occur due to protein C deficiency are:

  • Miscarriage in pregnant women
  • Skin disorders due to use of warfarin
  • Serious health problems due to pulmonary embolism, such as death of lung tissue and cardiac arrest
  • Neonatal fulminant purpura in infants

Prevention of Protein C Deficiency

In cases caused by genetic disorders, protein C deficiency cannot be completely prevented. However, the risk of blood clots due to the disease can be reduced. Some steps to reduce the risk of blood clots due to protein C deficiency are:

  • Do exercise regularly.
  • Drink enough water every day to avoid dehydration.
  • Avoid standing or sitting for long periods of time
  • Consume drugs prescribed by a doctor regularly.
  • Use special socks ( stockings ) recommended by doctors to prevent blood clots.
  • Do medical check-ups regularly, especially if there are family members who have a history of protein C deficiency.
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