Whenever the topic of ‘deficiency’ comes up, we tend to think of all those countries where people do not get enough to eat and who suffer from various deficiency diseases like anemia, rickets, scurvy and so on. We never tend to think of any kind of deficiency as being hereditary. But there are some rare deficiencies that are genetic and are caused when one or more genes is defective; for instance, deficiency of Protein C. Protein C helps in keeping the blood flowing in the veins to maintain its liquid consistency, failing which it would coagulate. If you wish to know more, read on about Protein C and its Deficiency.
Protein C Deficiency Signs And Symptoms
What is Protein C?
Protein C is the protein produced by the body that acts as an anti coagulant in the homeostasis system. It prevents the blood from clotting inside the body, that is, in the blood vessels. As a corollary, one can deduce that its deficiency will cause the blood to clot inside the blood vessels, causing thrombosis or the clotting of blood inside the vessels.
Protein C deficiency is caused mostly by congenital biochemical defects and there are two types of Protein C deficiency. The Type I is caused when the body does not produce the protein C and Type II is caused when it does not function properly. The former, or the complete lack of protein C, is caused when both the genes of the person are defective and is called homozygous deficiency. The latter is caused when only one of the genes is defective and is known as heterozygous deficiency. The other risk factors involved in this disorder are basically lifestyle related issues like obesity, too much use of oral contraceptives, varicose veins, heart or intravenous surgery, pregnancy or even congestive heart failure.
Many a times this disease does not show any symptoms until it snowballs into something bigger and deadlier. However, thrombosis or the blockage caused in the veins could point at a possible deficiency of protein C; this deficiency and the infections it causes, surprisingly never affect the arteries. One could also notice Cirrhosis, complete with coughing or vomiting of blood, jaundice and mental confusion. Another common symptom is the redness and inflammation along the affected segment of the veins.
The diagnosis of such kind of congenital disorder involves a thorough analysis of the patient’s medical history and family history, followed by a physical examination and laboratory tests. The medical and family history may reveal repeated episodes of thromboembolism, a family history of thrombosis and early onset of thromboembolism in the patient, during his teenage adolescence or even childhood.
There are various ways to treat Protein C deficiency, some of which are debatable. Homozygous deficiency must be treated very early with supplemental concentrates of protein C. Heterozygous protein C deficiency, in which only one gene is defective, is best treated by administering anticoagulant medicines, such as aspirin, heparin, or warfarin. All these medications are to be taken regularly to prevent clotting, rather than every time there is a thrombotic episode. Anticoagulant medication is usually prescribed for very long periods of life for people who suffer from this deficiency; sometimes they may have to take those medications all their lives. In very rare cases, warfarin may even become a cause of or induce protein C deficiency, which also inhibits protein C. Known as warfarin necrosis, this often leads to excessive clotting of blood and, eventually, could lead to haemorrhage.