Protein C Deficiency Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Protein C deficiency is a term used to describe a condition when a person is at risk of forming abnormal blood clots due to a lack of protein C. This protein C is a type of protein produced by the liver and distributed into the blood circulation.
This protein plays a role in regulating blood clotting by blocking the work of other proteins that play a role in helping coagulation or blood clotting. If there is a deficiency or deficiency of protein C, then a person will be more at risk for developing blood clots.
This condition can be found in both mild and severe forms. In mild circumstances, a person may not have formed an abnormal blood clot.
A mild state of protein C deficiency can be found in 1 out of every 500 people. This condition is also much rarer, estimated to be found in 1 in every 4 million people.
Symptom
The following symptoms can appear in someone with protein C deficiency:
- Purpura Fulminans is a life-threatening condition found in infants with severe cases of protein C deficiency. Symptoms appear in the form of blood clots in small blood vessels throughout the body.
- Deep vein thrombosis (DVT): formation of a blood clot in a deep vein (eg in an arm, leg, or brain). Be aware of the symptoms of cramps and pain in the arms or legs, changes in skin color to redness or purple, swelling and feeling hot in the painful area.
- Abnormalities in skin pigmentation.
- Gangrene: a condition in which body tissue dies because it doesn’t get enough blood supply.
- Pulmonary embolism: is one of the dangerous complications of DVT, when blood clots form in the veins of the lungs. Be aware of the symptoms of shortness of breath, chest pain, fast heartbeat, fainting, and coughing up blood.
- The risks in pregnancy, especially related to the formation of blood clots.
Reason
Protein C deficiency can be caused by congenital or acquired disorders.
In congenital disorders, the condition occurs due to a mutation in the PROC gene, which functions to provide information on making protein C instructions in the body. There are two types of congenital protein C deficiency, namely type I and II. In type I found low levels of protein C. Meanwhile, in type II found protein C with decreased activity from normal activity. Type II is found less frequently than type I.
Inheritance of protein C deficiency is inherited in an autosomal dominant manner. That is, one copy of the PROC gene mutation is sufficient to cause a mild form of protein C deficiency. The severity or severity of this form of the condition is determined by the number of PROC gene mutations in a person.
Apart from congenital abnormalities, acquired disorders can also cause protein C deficiency. For example, due to large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection and sepsis, vitamin K deficiency, tumors, intestinal discharge, and certain medications (such as warfarin or chemotherapy).
Diagnosis
To determine the diagnosis of protein C deficiency, a complete evaluation is required which is obtained from:
- Anamnesis or medical interview: dig up information on medical history, family medical history, as well as signs and symptoms that are felt.
- Physical examination: signs and symptoms consistent with protein C deficiency.
- Investigations: generally in the form of blood tests to assess the amount and function of protein C.
Treatment
The recommended treatment depends on the symptoms that the person with protein C deficiency is experiencing, as well as the form of this condition. In mild cases, that is, when an abnormal blood clot does not form, medication may not be needed.
In patients with protein C deficiency with high-risk symptoms. For example DVT and pulmonary embolism, you will most likely be advised to take medication to thin the blood.
Blood thinners may also be considered as preventive therapy in those who have a family history of blood clot formation, are at high risk such as being pregnant, and other risky conditions.
Treatments that may be recommended are anti-coagulants and exogenous sources of protein C (eg protein C concentrate, fresh frozen plasma ).
Prevention
Deficiency of protein C due to hereditary factors practically cannot be simply prevented. Several causes of protein C deficiency caused by other diseases cannot always be prevented.
Monitoring the condition and taking the right medication so that blood clots do not form can be done to prevent more severe conditions.