Are you worried about blood clotting? Let's talk about Protein C Deficiency

Have you ever felt like you were about to get a blood clot? Or have you suddenly felt like your leg was swollen and painful? The reason for these things may be different than you think. Today we are talking about a rare but very important condition to be aware of. That is Protein C Deficiency . Although the name may sound strange, it is related to the blood clotting process in our body. Let's see what it is, why it occurs, and what you can do about it.

What exactly is Protein C Deficiency?

Simply put, Protein C Deficiency is a condition in which our blood clots more than it needs, or in an abnormal manner. Here's a brief explanation.

Imagine that you have a wound somewhere on your body. Then, to stop the bleeding, some blood needs to clot. That's normal. It's our body's defense mechanism. But what happens if this blood clotting becomes uncontrolled and excessive? That's where the problem begins.

There are several natural things in our blood that control this blood clotting process, like the brake system of a car. Protein C is one such, a very important protein that controls blood clotting. This is called a natural 'anti-clotting agent' or an anticoagulant . That is, a substance that prevents blood from clotting.

Now you understand, right? Protein C Deficiency means that you don't have enough of this protein in your blood. When that happens, the brake that controls blood clotting doesn't work properly. The result is that blood clots start to form in the blood vessels. Blood clots that form in this way can cause very dangerous, even life-threatening conditions. For example, blood clots form in the deep veins of the legs (Deep Vein Thrombosis) and conditions like that blood clot breaks off and gets stuck in the lungs (Pulmonary Embolism) .

How common is this condition?

This is actually not something that is very common, but it is not as rare as we think.

• Mild form: It is estimated that this may affect only one in 200 to 500 people in the general population.
• Severe form: This is the rarest form. It affects about one in 500,000 to 750,000 people. However, the true number may be much higher than these estimates.

This condition affects both men and women equally.

What are the symptoms of this?

The symptoms of this disease vary depending on whether it is mild or severe. Let's look at the table below to understand this clearly.

What are the causes of Protein C Deficiency?

The main reason for this condition is genetic influence, which means it is something that is passed down from generation to generation.

Inherited Causes

There is a gene in our body that instructs us to make a protein called Protein C. It is called the PROC gene . If there is a mutation in this gene, Protein C may not be made properly, or even if it is made, it may not work properly.

• Type I Deficiency: This is caused by a decrease in Protein C levels.
• Type II Deficiency: This occurs when Protein C levels are normal, but the protein does not function properly.

Imagine that one of the parents has this mutated PROC gene. Then there is a 50% chance that the child they have will inherit that mutated gene. If that happens, the child will develop a mild form of this disease.

Now imagine that both parents have this mutated gene. Then there is a 25% chance that a child will inherit both of those mutated genes. That child will have the severe condition that shows symptoms at birth.

Acquired Causes

This is not always hereditary. Some medical conditions or other causes can also cause low levels of Protein C.

• Vitamin K deficiency
• Using the blood thinner Warfarin (we'll talk about this later)
• Serious liver disease
• A condition called Disseminated Intravascular Coagulation (DIC)
• Serious bacterial infection (Sepsis)

How to diagnose this disease?

If your doctor suspects you have this disease, they will test several things to confirm it.

• Your personal medical history: Whether you have had blood clotting problems before.
• Your family medical history: Does anyone in your family have these types of blood clotting problems?
• Blood tests: This is the most important. They measure your Protein C activity and Protein C level in your blood.
• Genetic testing: Genetic testing can be done to check for a mutation in the PROC gene. However, this is not necessary to confirm the disease.

How is it treated?

The treatment depends on what type of Protein C Deficiency you have and the severity of your symptoms.

Treatment for mild form

• Most people don't need treatment: Most people don't need any treatment. However, special attention and possibly treatment may be needed during surgery, during pregnancy, if they have a major accident (e.g., a car accident), or during periods of physical inactivity (e.g., if they are confined to bed).
• Anticoagulants: If you have already had a thrombotic event, your doctor will prescribe you anticoagulants.

Treatment for severe form

For this serious condition in newborns, a special treatment called Protein C concentrate (Ceprotin®) or fresh frozen plasma is given.

What complications can this cause?

There are several major complications that can arise from this condition.

• Warfarin-related skin problems: After starting warfarin, some people may develop painful, red or purple lesions. These are most common on the upper body, arms or legs. If not treated properly, this can lead to death of the skin and underlying tissue.
• Pulmonary Embolism: A blood clot that forms in the legs (deep vein thrombus) can break loose, travel through the bloodstream, and lodge in a vein in the lungs. This is a life-threatening condition.
• Purpura Fulminans: A blood clotting problem throughout the newborn's body. If left untreated, it can be fatal.
• Complications of fresh plasma therapy: When babies are continuously given this treatment, complications can occur due to increased fluid levels in the body (fluid overload).

What can you expect after being diagnosed with the disease?

The outcome of this varies greatly depending on the severity of the disease.

The prognosis for babies with severe Protein C Deficiency is not good. They may even die shortly after birth. There is not enough information yet to say what the long-term survival of those with this serious condition is.

If you have a mild form, you are at risk of recurrent venous thromboembolism. There is also a risk that the clots will travel to the lungs. For best results, it is important to keep your doctor's follow-up appointments. This will allow him or her to monitor your condition closely and adjust your treatment as needed.

Can this be prevented?

Since Protein C Deficiency is largely hereditary, it cannot be prevented. However, parents and children can consult a hematologist to learn more about it and get the necessary tests done.

Also, Protein C Deficiency caused by other medical conditions can sometimes be prevented. For example,

• The estrogen hormone in some birth control pills that women take can increase the risk of blood clots.
• This risk is further increased by factors such as smoking, obesity, pregnancy, and physical inactivity.

In some cases, your doctor may prescribe preventive doses of anticoagulants to reduce this risk. Therefore, it is very important to talk openly with your doctor about your risk factors.