Protein C and S Deficiencies

Introduction

Protein C and protein S deficiencies are usually inherited clotting disorders. However, protein C deficiency can be caused due to conditions like Warfarin therapy, severe bacterial infections, and Vitamin K deficiencies. Protein S deficiency can also be caused due to conditions like intake of birth control pills and Vitamin K deficiencies, and pregnancy. People with protein S deficiencies do not usually get dangerous blood clots, but there are chances of occurrence of conditions like pulmonary embolism or deep vein thrombosis. Please read this article to know more about protein C and S deficiency and how they are effectively managed.

What Are Protein C and S Deficiencies?

Protein C Deficiency is a condition that causes abnormal clotting of the blood. Protein C is a part of the natural anticoagulants in the blood that prevent blood clotting. A deficiency of protein C indicates that there are not enough levels of this component to protect the individual in case excessive clotting occurs. Usually, the blood has to clot to stop internal bleeding. However, increased clotting levels can lead to life-threatening issues like pulmonary embolism and deep vein thrombosis.

Protein S Deficiency is an inherited disorder, and people with this disorder usually never form blood clots. Protein S is a natural coagulant that keeps a check on the clotting mechanism. It also prevents other coagulation proteins from creating more blood clots. When a deficiency of the protein S happens, the body faces difficulty managing the coagulation pathway, which can lead to excessive clotting. In addition, protein S deficiency can cause deep vein thrombosis, which leads to the formation of blood clots in the veins of the arms or legs. If these blood clots enter the lungs, it can lead to a condition called pulmonary embolism, which is dangerous. Even though it is uncommon, there are chances of the formation of blood clots in the abdomen area or the brain.

What Causes Protein C and S Deficiency?

Protein C deficiency is caused by a mutation in a gene called the PROC. The PROC gene provides instructions to produce protein C. Children with at least one parent having the deficiency have a 50 percent chance of inheriting the gene. Children whose both parents have the mutation will be severely affected and can have very low levels of protein c since birth. The mild form of protein C deficiency can be of two types.

• Type I - People have low protein C.

• Type II - People have normal protein C levels, which do not function normally.

Protein C Deficiency can also occur in conditions like severe liver disease, and bacterial infections, which lead to sepsis, vitamin K deficiencies, Warfarin therapy, and disseminated intravascular coagulation (DIC).

Changes or mutations in the PROS1 gene cause protein S deficiency. Since protein S deficiency is inherited, children will have a mild deficiency if obtained from one parent. However, they can have a severe deficiency when the mutation is present in both parents. Protein S deficiency can also be acquired and can be seen in conditions like infections, vitamin K deficiencies, pregnancy, intake of birth control pills, liver disease, kidney disease, chemotherapy, and nephrotic syndrome.

What Are the Symptoms Seen in Protein C and S Deficiency?

Symptoms seen in a protein C deficiency include:

• Venous thromboembolism (formation of blood clots in the vein).

• Deep vein thrombosis (blood clots forming in the legs) can also form in the veins of the large and small intestines, the brain, the liver, and other areas.

• Symptoms may not appear until adulthood and can sometimes be asymptomatic.

• With increasing age, there are chances of blood clots developing.

• Children with severe protein C deficiency can have symptoms like abnormal bleeding in the affected areas, clotting conditions like disseminated intravascular coagulation, and purpura fulminans. In conditions like these, blood clots can appear in the arms and legs.

Symptoms seen in a protein S deficiency include

• Blood clots occur during pregnancy.

• Formation of blood clots in the legs or deep vein thrombosis.

• Pulmonary embolism.

• Severe forms of this disorder can even cause strokes in children.

How Are Protein C and S Deficiencies Diagnosed?

1. Diagnosis of Protein C Deficiency:

• The healthcare provider will take a detailed history of blood clots, and personal history of clots and do certain tests like blood and genetic testing.

• Blood tests are done to understand the activity of protein C and its levels.

• Genetic tests will determine the presence of any mutation in the PROC gene.

2. Diagnosis of Protein S Deficiency:

• The healthcare provider will take a detailed medical history and confirm the diagnosis of the deficiency. The doctor will also advise blood tests.

• Protein S deficiency is usually suspected if there is a family history of venous thromboembolism.

• The doctor will also enquire about any recurrent formation of blood clots, blood clots formed before the age of 50 without any particular cause, and venous thrombosis in unusual places like the liver, brain, or intestine.

How Is Protein C and S Deficiency Managed?

1. Management of Protein C Deficiency:

• Management of protein C deficiency is based on the severity of the symptoms.

• Mild forms of the deficiency usually receive no treatment except if the person has undergone surgery, is pregnant, or is physically inactive.

• If a blood clotting event occurs, mild deficiencies are treated with anticoagulants.

• If Warfare is used, heparins are started to prevent complications of widespread clottings in the skin and soft tissue areas. The healthcare providers will closely monitor the anticoagulant therapy during the initial stages.

• If any bleeding or other concern happens, it is better to contact the health care provider and seek immediate medical attention. It is recommended not to stop medications on their own.

• Fresh frozen plasma or protein C concentrate is given to children with severe protein C deficiency with purpura fulminans.

2. Management of Protein S Deficiency:

• If a person has protein S deficiency but has not had a blood clot yet, treatment is not usually done, except in certain situations.

• Venus thrombosis is treated with anticoagulants or blood thinners.

• Anticoagulants include Warfarin, Heparin, Rivaroxaban, Dabigatran, and Apixaban.

• If the doctor decides on Warfarin therapy, they usually begin with heparin to prevent any complications of widespread clotting in the soft tissue and skin area.

• However, this is optional in the case of other anticoagulants.

• Blood thinners are also advised when a person undergoes surgery in case of trauma, pregnancy, and an inability to move around.

• When people have a mutation for the deficiency but do not have a blood clot, the doctor will advise them to be careful from any blood clotting events and prevent taking certain medications like birth control pills which can promote blood clotting.

Conclusion

Mutations of certain genes in the body cause protein C and S deficiencies. People with protein C disorders are usually asymptomatic and may not require any treatment. However, blood thinners like Warfarin and Heparin are given if medical intervention is necessary. People with a protein S deficiency are given blood thinners like Warfarin and Heparin to prevent the occurrence of excessive clotting.