Protein c and protein s deficiency practical diagnostic issues. Bc i just moved into a new state i dont have an obgyn. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. However, many adults with heterozygous disease may be asymptomatic millar et al.
The proteins are natural substances that help prevent blood clots. Protein and amino acid requirements in human nutrition report of a joint whofaounu expert consultation the world health organization and the food and agriculture organization have worked to quantify the energy and nutrient needs of populations since 1949. Protein c is a vitamin kdependent coagulation inhibitor that is synthesized by the liver and responsible for inactivating factor va and factor viiia after it is activated by thrombin. Protein s is a vitamin kdependent plasma protein that inhibits blood clotting by serving as a cofactor for activated protein c also a vitamin kdependent protein, and the clinical manifestations of its deficiency are virtually identical to those of protein c deficiency.
What is protein s deficiency and why does it make a clot. An mri revealed a previous stroke and the neurologist concluded. While a role for protein s in the protein cthrombomodulin anticoagulant pathway is. Protein c deficiency is a blood clotting disorder that is usually related to abnormalities in the specific genes. Protein c deficiency hematology and oncology merck. Activated pc, along with its cofactor protein s, are the essential molecules that limit clotting. Protein c deficiency is a disorder that increases a person s risk to develop abnormal blood clots due to a deficiency of the protein c, a protein in the body that prevents blood clotting. Role of antithrombin iii, plasminogen, protein c and. Deficiency of protein c in patients with portal vein. Protein c deficiency occurs when the ratio of protein c and factor ii drops beneath 0.
Lab result confirming low protein c activity due to low protein c levels or function or both. Protein s, a vitamin kdependent protein, is a cofactor for activated protein c. Protein c and protein s deficiency practical diagnostic issues article pdf available in advances in clinical and experimental medicine 224. That s because pregnancy is a risk factor for developing blood clots. Protein s deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Aside from the issue of protein c and protein s deficiency, the patient you are describing may have had one or more thrombotic blood clotting episodes that are independent of the protein c and protein s diagnosis. Protein c deficiency why is warfarin so hard to get leveled out at the right levels. A dvt can travel through the bloodstream and lodge in. Espinosaparrilla y, morell m, souto jc, tirado i, fontcuberta j, estivill x, sala n. Protein c deficiency was identified in three out of 52 cases and 18 out of 268 controls pvalue 0. Inactivating factors ii and x halts the clotting cascade. Hematology an ad condition clinically and therapeutically similar to heterozygous protein c deficiency, characterized by pulmonary thrombosis, dvt, thrombophlebitis. Pdf deficiencies of proteins c, s and antithrombin and.
It should be noted that because apc requires interaction with protein s for full activity, deficiencies in protein s are. The disease belongs to a group of genetic disorders known as thrombophilias. Protein c deficiency can be inherited from one or both parents. The function of protein s is to stop the action of two activated. Protein s deficiency is a disorder that causes abnormal blood clotting. Protein c deficiency is a disorder that increases a persons risk to develop abnormal blood clots due to a deficiency of the protein c, a protein in the body that prevents blood clotting. There is a mild form in which affected individuals are at risk for developing blood clots, particularly a type of blood clot called. Women with protein c deficiency have a higher risk of developing clots both during and after pregnancy. The only way to know if you have protein s deficiency is by a blood test.
Thats because pregnancy is a risk factor for developing blood clots. Ive had 2 miscarriages in the last year and a half due to protein s deficiency. Protein c deficiency is a congenital or acquired condition that leads to increased risk for thrombosis. Decreased antigen levels or impaired function of protein s leads to decreased degradation of factor va and factor viiia and an increased. This disorder is transmitted as autosomal dominant and is seen in 0. Protein c deficiency is a recently described disorder characterized by a predisposition to develop thromboembolic disease. They disable factors va and viiia, leading to decreased production of thrombin and fibrin as shown in figure 3. Protein c deficiency may be a diffi ult thrombophilia for clinicians to identify as there are no presenting physical signs or sympto s in most affected individuals. A deficiency of pc is one of several hereditary abnormalities of haemostatic proteins that have been described in patients with.
Protein c and d dimer are related to portal vein thrombosis in patients with liver. We report the findings in two patients with portal hypertension and bleeding varices due to portal vein thrombosis in whom a deficiency of protein c was present. Reference intervals for a child over 1 year old are the same as adults. Scientific and standardization committee communication protein s. Many remain asymptomatic but up to 5% of familial thrombophilias are the result of protein c or protein s deficiency. It circulates in the blood as an inactive enzyme precursor. Asked 7 may 2014 by shalom72c updated 1 september 2015 topics protein c deficiency, deep vein thrombosis recurrent event, protein c, warfarin, diagnosis. Protein c pc is the central component of a major antithrombotic regulatory system with both anticoagulant and profibrinolytic properties. The important concern is whether disease exists that might be progressive. A deficiency of antithrombin iii, plasminogen, protein c or protein s, may be associated with a prothrombotic state and can predispose patients to an increased risk of developing deep vein thrombosis. Enable javascript to view the expandcollapse boxes. Protein c deficiency occurs in approximately 1 of every 200 to 500 people, whereas protein s deficiency occurs in approximately 1 of every 500 individuals. Protein c deficiency why is warfarin so hard to get. Protein s deficiency nord national organization for rare.
Protein c is a vitamin kdependent glycoprotein synthesized in the liver. Inherited deficiency of protein c can lead to familial thrombophilia increased tendency toward thrombosis. In that instance, the patient must remain on some form of antithrombotic therapy to avoid a new adverse incident. These clots occur in the deep veins of the arms or legs, away from the surface of the skin. Protein s, a vitamin kdependent physiological anticoagulant, acts as a nonenzymatic cofactor to activate protein c in the degradation of factor va and factor viiia.
Rovida e, merati g, dursi p, zanardelli s, marino f, fontana g, castaman g, faioni em 2007. Protein s deficiency is a rare genetic disorder of blood coagulation that is caused by a variation in the. The results of a specimen collected ten days after the event showed that his protein c and protein s activities were 54% and 40%. Most people with protein c deficiency have inherited the abnormal protein c gene from one parent. I made a few calls yesterday to different drs offices and explained my situation but i. Such a deficiency can be inherited or acquired vitamin k deficiency, medications, infections, etc.
Protein c deficiency is associated with an increased incidence of venous thromboembolism relative risk 810, whereas no association with arterial thrombotic disease has been found. We are presenting a case of deep vein thrombosis dvt of lower limb which was subsequently found due to protein c deficiency. To our knowledge, this is the first reported case of a temporary protein c and s deficiency in a patient with thrombosis and inflammatory bowel disease. Protein c and protein s deficiency the fritsma factor. The person, who has 2 defected protein s genes one defective gene from father and other defective gene from mother, is known as. The following section provides an overview of strategies to identify atrisk patients and for determining the need for.
Protein c is a vitamin kdependent protein, as are coagulation factors vii, ix, and x. Because protein s binds and assists activated protein c in the degradation of coagulation factors va and viiia, deficiency of protein s predisposes to venous thrombosis. Other proteins in the blood, such as protein s, usually regulate these chemical reactions to prevent excessive clotting. The rare homozygous patients have neonatal purpura fulminans, as described above. Prescribed by or in consultation with a hematologist or physician with expertise in inherited thrombophilias. Protein c deficiency is associated with a small percentage of cases of inherited thrombophilia, as well as the even more uncommon findings of warfarininduced skin necrosis and neonatal purpura fulminans, and a possible weak association with pregnancy loss. Protein s deficiency and blood clots what is normal.
Protein s deficiency is a potential risk factor for forming venous clots. Because activated protein c degrades coagulation factors va and viiia, deficiency of protein c predisposes to venous thrombosis. Protein s deficiency is an inherited thrombophilia associated with an. This means that if one parent has it, then each child has a 50. Protein c and ddimer are related to portal vein thrombosis in patients with liver. Heterozygous individuals are quite frequent in the general population with estimates of 0. The person, who has 1 defective protein s gene inherited either from father or mother, is known as heterozygous for protein s deficiency.
Because protein c and s are both vitamin k dependent anticlotting factors. Congenital protein c deficiency is one of several inherited thrombophilias, which are a heterogeneous group of genetic disorders associated with an elevated risk of venous thromboembolism. Hps2 eluate, and n protein s functional activity after initiation of warfarin. Protein c deficiency is a rare genetic trait that predisposes to thrombotic disease. Protein s deficiency is a disorder associated with increased risk of venous thrombosis. Protein c deficiency nord national organization for.
If there is a deficiency of protein s, these clotting proteins remain activated so there is more of a tendency for blood to clot. Both protein c and protein s deficiency are thought to increase the risk of developing thromboembolic complications during pregnancy, delivery and puer peral period 79. Congenital protein c or s deficiency is a lack of proteins c or s in the fluid part of the blood. Protein s is an endogenous vitamin kdependent anticoagulant that acts as a nonenzymatic cofactor for activated protein c apc. Protein c deficiency is a rare genetic abnormality that predisposes the patient to thrombophilia and leads to thrombosis, often at unusual sites. Individuals with mild protein s deficiency are at risk of a type of clot called a deep vein thrombosis dvt that occurs in the deep veins of the arms or legs. Acquired protein c and s deficiency, inflammatory bowel. Protein s deficiency definition of protein s deficiency.
Protein c deficiency is a disorder that increases the risk of developing abnormal blood clots. Investigation of blood coagulation revealed a temporary protein c, protein s and factor ii deficiency. Protein c and protein s deficiency paolo aquino 18 february 2003 hemostasis the hematologic system is in a balanced flux between procoagulant and anticoagulant factors imbalance in either direction produces dire consequences. If a dvt travels through the bloodstream and lodges in the lungs, it can cause a life. This is the latest in a series of reports that aim to provide. Protein s gene analysis reveals the presence of a cosegregating. Heterozygous protein c deficiency is characterized by recurrent venous thrombosis. Individuals with decreased amounts of protein c are classically referred to as having type i deficiency and those with normal amounts of a functionally defective protein as having type ii deficiency bertina et al. Similarly, combined deficiency of proteins c and s can lead to hypercoagulable state and rarely presents as a cerebrovascular accident. Congenital protein c or s deficiency nicklaus childrens. Deficiencies of these anticoagulant proteins may be acquired or congenital. Protein s deficiency hematology and oncology merck.
Protein c has the shortest half life of all the vitamink dependent factors in patients with protein c and s deficiency, there is. People suffering from this condition are predisposed to the development of abnormal blood clots. There are no particular symptoms of protein s deficiency unless you. Protein c deficiency is less common than factor v leiden or mutation in the prothrombin gene g20210a. This means it helps to prevent the blood from clumping together clotting too much. Il test free protein s a diagnostic tool for protein s deficiency. Protein s is a protein that prevents clotting an anticoagulant, and requires vitamin k for its production and works with protein c. Most vte events in heterozygous protein s deficiency occur in persons younger than 4045 years. Protein c deficiency is a rare genetic disorder characterized by a deficiency of protein c, which is a natural anticoagulant. It is caused by mutations in the proc gene, and in most cases is. We describe here a case of a 25yearold man who presented with right middle cerebral artery territory infarct due to protein c and s deficiency. Protein c pc and protein s ps are vitamin kdependent glycoproteins, that act as natural anticoagulants. The test will determine the level of protein s in your blood.