What Is a Blood Clot?
When a blood vessel is broken, blood clots develop as a collection of sticky blood cells. As a typical reaction to blood vessel injury, the body produces blood clots. Its primary function is to close a leak in a damaged blood artery.
Blood clots can develop in or move to the arteries and veins of the brain, heart, kidneys, lungs, and limbs. Blood clots can restrict or completely stop blood flow.
Blood clots are commonly associated with headaches, difficulty speaking, and disorientation. The majority of clotting factors are enzyme-like proteins. Normally, all of the components are present as inactive pro-enzymes. In order to induce clot formation, these pro-enzymes must be converted into enzymes. This process is repeated until the final active enzyme; thrombin is generated. Blood clotting happens in three phases in general.
-
Prothrombin activator formation.
-
Prothrombin to thrombin conversion.
-
Fibrinogen to fibrin conversion.
What Is Protein S Deficiency?
Protein S are naturally occurring molecules in the blood that aid in the prevention of clotting. It acts as a natural anticoagulant or blood thinner. If these proteins are missing, there is an increased risk of forming deadly blood clots, especially in pregnant women. Protein S deficiency can also be caused by liver or renal illness, human immunodeficiency virus (HIV) infection, or a lack of vitamin K. Its primary role is to act as a cofactor in the action of activated protein C (APC) on its substrates, activated factor V (FVa), and activated factor VIII (FVIIIa).
What Are the Different Types of Protein S Deficiency?
Protein S insufficiency is classified into three types:
-
Type I- The decrease in protein S activity is proportionate to the decrease in protein S level.
-
Type II- The levels of the protein's free and bound versions are normal. However, they do not function correctly due to a gene mutation.
-
Type III- Total protein S levels are normal, but free protein S levels are unusually low.
Mild protein S deficiency is a genetic thrombophilia or clotting condition that is more frequent than the severe variety. Protein S deficiency can affect anybody, regardless of gender, who has the genetic abnormality.
What Are the Signs and Symptoms of Protein S Deficiency?
Individuals with protein S deficiency are at risk of developing blood clots, particularly those that originate in veins (venous thromboembolism). It is the veins that transport blood to the heart.
-
A blood clot in the legs or deep vein thrombosis (DVT) is the most common symptom that may occur.
-
Blood clots formed during pregnancy.
-
Embolism of the lungs (a disorder in which a blood clot blocks one or more arteries in the lungs.).
-
Stroke (damage to the brain caused by a disruption in its blood supply) may occur in a youngster with the severe form of the illness.
-
Thrombosis (blood clots obstructing veins or arteries) of lower extremities.
-
Superficial thrombophlebitis (a condition in which the clotting vein lies just beneath the skin).
-
Redness in the affected area.
-
Purpura fulminans (an acute purpuric rash characterized by microvascular coagulation, resulting in purpuric lesions and skin necrosis).
What Are the Causes of Protein S Deficiency?
Protein S deficiency is caused by a mutation or alteration in the PROS1 gene. This is a hereditary condition, which means the individuals have acquired it from either one or both parents. If individuals inherit a modest protein S deficiency from one parent, they will have a severe protein S deficiency if they have inherited protein S gene mutations from both parents. If these individuals have a PROS1 mutation, each of their offspring has a 50 % chance of inheriting it.
The acquired type of protein S deficiency is more prevalent and can be seen in the following scenarios.
-
Diseases of the liver.
-
Kidney failure.
-
Nephrotic syndrome (kidney condition in which the body excretes an excessive amount of protein in the urine).
-
Chemotherapy (a medication that employs strong chemicals to destroy rapidly developing cells in your body).
-
Infections.
-
Surgery.
-
A deficiency in vitamin K.
-
Birth control pills.
-
Pregnancy.
How to Diagnose Protein S Deficiency?
Identification of distinctive symptoms, a complete patient and family history, a thorough clinical assessment, and a range of specialist testing are used to make a diagnosis of protein S deficiency.
A hereditary type of protein S deficiency can be difficult to diagnose since many other illnesses can temporarily deplete protein S levels in the blood (acquired protein S deficiency).
-
Blood Tests- These will be performed in order to rule out the presence of protein S enzyme in the blood. This is normally accomplished by drawing blood from a vein.
-
Physical Exam- This will be carried out to determine the presence of deep vein thrombosis or any other symptoms.
-
Medical History- A thorough medical history will be gathered to determine whether or not it was acquired.
How to Treat Protein S Deficiency?
-
Protein S deficient patients do not have a particular treatment. However, anticoagulant medications are extremely effective in treating and preventing blood clots in people with the most common form of protein S deficiency (due to the inheritance of one abnormal protein S gene). Regardless of the underlying risk factor or genetic aberration that predisposes a patient to have a blood clot, such medicines are often beneficial.
-
If the provider discovers that patients have protein S deficiency but have never had a blood clot, then they are unlikely to require therapy unless specific conditions exist.
-
Heparin, Warfarin, Rivaroxaban, Apixaban, and Dabigatran are common anticoagulants. If the physician decides to use Warfarin, they must first provide Heparin to avoid a problem in which there is extensive clotting, particularly in the skin and soft tissues. This is not required with the other anticoagulants. Depending on the circumstances surrounding the blood clot, the medical provider may continue therapy for many months or for the longest time possible.
-
When the individuals have the protein S deficient mutation and have not had a blood clot, the provider will want to keep patients from acquiring one. They may advise patients not to use some medications, such as birth control pills, since they might cause blood clotting. Mostly they are unlikely to require therapy unless specific conditions exist.
What Is a Protein S Measurement?
In rare circumstances, protein S deficiency can be inherited. Some people are just born with an anticoagulant deficit. If there is a history of significant blood clots in one or more close family members, or if someone in the family has a known protein S deficiency, the physician may propose testing.
When a blood clot (thrombosis) forms in a vein or artery, the doctor will generally examine the protein S level. This will help them determine the cause of the thrombosis.
Before the test, the doctor will review the medical history and medication usage to determine when it should be performed. The test should not be performed during an active clotting event because a blood clot lowers protein S levels naturally, rendering the test findings incorrect. Patients must also abstain from anticoagulants for at least two weeks prior to testing.
For their protein S measurement, they will need to supply a blood sample. The doctor will inject a needle into one of the veins and take a blood sample in a vial. There may be some discomfort while the needle is placed, as well as some soreness afterward. Serious problems are uncommon.
Conclusion
Protein S deficiency is a hereditary thrombophilia that raises the risk of thromboembolism. Diagnosis of inherited protein S deficiency can be challenging, especially in the context of acute thrombosis or anticoagulant therapy. Affected people are more likely to develop blood clots in their legs, which can break off and go to their lungs. Protein S deficiency can occur as a result of acquired conditions such as kidney illness, pregnancy, or the use of oral contraceptives.
The most effective treatment for this condition is anticoagulant therapy. In some cases, individuals may not exhibit any symptoms and hence may not require therapy.
