About Protein C Deficiency:
Protein C is extremely vital for the body. It promotes wound healing by regulating blood clots. If a person is protein C deficient then he or she may end up having abnormal blood clots which can be potentially serious. Blood clots can occur both internally as well as externally. A blood clot is formed after an injury to the arteries or blood vessels. They usually resolve after the wound has healed. The process of clot formation is termed as coagulation. For this process to run smoothly, the adequate amount of proteins and platelets are required.[1, 2, 3]
However, there are times when there are clots formed without any injury or wound. This is a cause of worry and requires prompt treatment. This is because clot formation without any identifiable cause can be very serious and at times fatal if not treated. Protein C deficiency can be both acquired as well as genetic. Protein C Deficiency can be mild and severe. In the mild form, the affected person is at risk for developing a clotting disorder called deep vein thrombosis. This is a clot that forms in the legs.[1, 2, 3]
Severe form of protein C deficiency is rare, but if present, can have disastrous consequences and can be life-threatening. In the severe forms, small blood clots form in different areas of the body and the disorder is present at birth meaning that the clotting disorder starts right from infancy. The gene responsible for congenital protein C deficiency is the PROC gene.[1, 2, 3]
The mild form of protein C deficiency is caused by mutations in one PROC gene. It is inherited in an autosomal dominant manner meaning that one copy of the defective gene inherited from either parent can cause this condition. The severe form of protein C deficiency is caused due to mutations of two PROC genes and is inherited in an autosomal recessive manner meaning that two copies of the defective gene one from either parent is required for a baby to get this disease.[1, 2, 3] In the article below, we discuss about the potential causes of both genetic and acquired causes of Protein C Deficiency and what can be done about it.
What Causes Protein C Deficiency?
As stated, Protein C deficiency can be both inherited and acquired. The inherited form of protein S deficiency is caused due to mutations of the PROC genes. Experts have come up with around 270 mutations of this gene that reduce the production of protein C or prevent them from functioning normally. The more number of mutations of the PROC genes the greater the severity of the disease will be.[3]
People can also get Protein C Deficiency as a result of certain medications, surgery, or medical conditions. These include chronic use of blood thinners like warfarin. People who are ion antibiotics but do not take adequate diet can also develop Protein C Deficiency. Some people do not have enough intake of vitamin K in their diet. Such people also at times develop Protein C Deficiency. People with a known diagnosis of tumors at various locations in the body also can acquire Protein C Deficiency.[3]
People with liver failure, certain bacterial infections, and clotting disorders can also have Protein S Deficiency. People who have surgery to remove the small intestine can also at times develop this condition. Aside from these causes there are also some risk factors that increase the likelihood of a person developing Protein C deficiency. People with a family history of this condition, especially in a blood relative, are more likely to develop it than others.[3]
Congenitally, there is a chance that there is a 50% chance of a baby inheriting Protein C deficiency from the parents if they are carriers of the defective PROC gene. If a baby inherits the defective gene in an autosomal recessive manner that two copies of the gene, one from either parent, is inherited then it is more than likely that the baby will develop the severe form of Protein C Deficiency. Some of the other risk factors include age of a person, history of any surgical procedure, sedentary lifestyle, pregnancy, or presence of a medical condition that affects clotting of blood.[3]
What Can Be Done About Protein C Deficiency?
Having an ideal weight, staying active, exercising, and abstaining from smoking are some of the lifestyle changes that should be adopted not only in people with Protein C deficiency but even in people without it to stay healthy. However, in people with a diagnosis of protein C deficiency, avoiding any form of estrogen therapy or taking contraceptives that contain estrogen as one of its components is recommended. People who have a family history of protein C deficiency should get themselves tested even if they are asymptomatic.[3]
In individuals awaiting any surgical procedure, it is highly recommended that they inform the physicians and surgeons about protein C deficiency so that proper steps can be taken after surgery to prevent any abnormal clotting. Similarly, pregnant females and people going on long flights should also take preventive steps if they have protein C deficiency to prevent any abnormal clotting.[3]
In cases of inherited protein C deficiency, treatment basically involves long-term use of blood thinners. If the person does not have symptoms but has a diagnosis of protein C deficiency then treatment with blood thinners is normally given when there is a risk for clotting such as post surgery, being immobile for a long time, or when there is use of a catheter for diagnostic or therapeutic purposes. In such situations, people are advised to cut down on the dosage of blood thinners. They can also supplement protein C through synthetic concentrate.[3]
In conclusion, Protein C deficiency is a condition in which there is lack of adequate production of Protein C which is a vital protein required for blood clotting. People with this disorder are at increased risk for abnormal clotting which at times can be lethal. Protein C Deficiency can be acquired or inherited. A person can get the acquired form of this condition in cases where there is a surgical procedure involved for removal of the small intestine or if a person has been on blood thinners for a long time.[1, 2, 3]
Inherited form of protein C deficiency is caused by mutations of the PROC gene. There are about 290 mutations of these genes identified. People who inherit this gene get the severe form of protein C deficiency. This condition can be inherited in both autosomal dominant and recessive forms. The primary treatment of protein C deficiency involves use of blood thinners in people with congenital form of this disorder.[1, 2, 3]
People can also use supplements with synthetic concentrates. It is essential to inform healthcare providers about this trait if someone has to undergo a surgery or take long flights. Pregnant females need to check with their physicians about the steps they should take to prevent any complications of blood clots as a result of Protein C Deficiency.[1, 2, 3]
