Protein C is part of a complex system that regulates the process of blood clotting. It is a vitamin K-dependent protein. As part of hemostasis, it controls the process of blood clotting. In the case of protein C deficiency, this can be disturbed.
What is protein C deficiency?
Protein C deficiency has a major impact on blood clotting. In this process, protein C has the task of deactivating the blood clotting factors FV and FVIII. If this deactivation fails to occur, blood clots are formed. Protein C basically has several functions in the organism. It has an anticoagulant effect. This means that it has an inhibitory effect on blood clotting. Furthermore, it even dissolves blood clots because it also has a profibrinolytic effect. Finally, it also has an anti-inflammatory effect. At the same time, it stabilizes the inner vascular wall of blood vessels and inhibits programmed cell death. The main task of protein C is to prevent uncontrolled clotting of the blood at uninjured sites in the event of injury. In the event of injury, protein C is converted into activated protein C (aPC). This then forms a complex with protein S. Protein S is a cofactor of protein C. Thus, this complex represents the actual anticoagulant. Thus, this complex represents the actual anticoagulant. Thus, a deficiency of protein C results in the increased formation of blood clots and thrombosis.
Causes
Protein C deficiency can be congenital or acquired. For example, severe congenital protein C deficiency is a very rare condition. This form of protein C deficiency is genetic and affects one in 200,000 newborns. Symptoms sometimes do not become apparent until young adulthood. In some cases, however, the fetus can already be affected, and thrombosis of the fetus and miscarriages can occur. The genetic defect can be either homozygous or heterozygous. In the homozygous form, clinical symptoms are more severe. Acquired protein C deficiency is caused either by decreased production of the protein due to liver disease or by its increased degradation due to bacterial sepsis, among other causes. Acquired protein C deficiency also results from coumarin treatment. Coumarin treatment is used to inhibit clotting. Overdose can result in skin necrosis, which in turn causes protein C deficiency. Because vitamin K is a prerequisite for the formation of protein C, vitamin K deficiency also results in decreased production of protein C.
Symptoms, complaints, and signs
The severity of symptoms in protein C deficiency depends on the concentration of protein C in the blood. If its concentration is only slightly reduced, no symptoms occur. When concentrations of protein C are severely reduced, microthromboses occur, clogging the smallest blood vessels in the skin and organs. This results in tiny hemorrhages in the skin that cannot be squeezed away. These are called petechiae. As the disease progresses, the petechiae flow into each other, forming a continuous large area. This process is called purpura fulminans. In the course of purpura fulminans, the areas of skin affected by the microclogs die. This is a very painful process, which can take an extremely unfavorable course. The microthrombi cause the death of tissue cells in many other organs besides the skin. In the worst case, this results in multi-organ failure with a fatal outcome. The congenital protein C deficiency leads to increased thrombosis in the veins of newborns. Furthermore, these infants are also at risk for atypical thrombosis in the brain or intestine.
Diagnosis and course of the disease
If protein C deficiency is suspected, a blood test is performed to examine the blood for protein C concentration and activity. First, the activity of the protein is determined. This should be between 70 and 140 percent. Protein C deficiency is already diagnosed if the activity is below 70 percent. However, if the protein has an activity that is below 20 to 25 percent, treatment should be initiated immediately to avoid the most severe symptoms or even a fatal course. Next, the protein C concentration is determined. However, this examination only makes sense if a reduced activity of protein C has already been determined previously.The normal range for the protein C concentration is approximately two to six milligrams per liter. To clarify whether a congenital or acquired deficiency is present, the condition of the liver, the amount and type of medication taken, and the vitamin K concentration are also examined.
Complications
As a result of protein C deficiency, affected individuals suffer from impaired blood clotting in most cases. This has a very negative effect on the quality of life and can lead to various complaints and complications in the daily life of the affected person. As a rule, small hemorrhages occur directly on the skin. These are often painful and cannot simply be squeezed away. The internal organs can also be affected by bleeding due to the protein C deficiency, so that in the worst case, organ failure can occur in the patient. Thrombosis can also be favored due to the deficiency. As a rule, protein C deficiency can be diagnosed relatively easily with the help of a blood test, so that early treatment is also possible for this disease. If treatment is not given, irreversible damage to the internal organs can occur due to the protein C deficiency. The treatment itself is carried out with the help of medication and can alleviate the symptoms. However, affected individuals are usually dependent on lifelong therapy if causal treatment is not possible. Whether there will be a reduced life expectancy due to protein C deficiency cannot usually be universally predicted.
When should you see a doctor?
Congenital protein C deficiency is diagnosed immediately after the child is born. Whether further visits to the doctor are necessary depends on the severity of the deficiency. For mild conditions, it is sufficient to give the child the necessary protein intravenously. Severe conditions can lead to thrombosis and other complications that require intensive medical care. Acquired protein C deficiency manifests itself in symptoms such as fatigue and malaise in the child. In addition, circulatory disorders and skin changes may occur. If these symptoms occur, a doctor should be consulted. Parents of affected children should consult the pediatrician. The actual treatment is usually carried out by a specialist in internal diseases. This may be accompanied by a nutritionist. Since protein C deficiency is a severe disease that places a great burden on parents and child alike, therapeutic support is important. Parents should contact the appropriate physician and maintain close consultation with him or her during and after treatment.
Treatment and therapy
In acute protein C deficiency, protein C must be administered directly by infusion to prevent microthrombosis with possible organ failure. This treatment restores microcirculation in the capillaries. This returns the acute life-threatening condition to normal. Especially in infants with congenital protein C deficiency, this treatment method is the only way to prevent a fatal outcome. Rapid administration of heparin as another anticoagulant overlaps the period of protein C deficiency. In the case of acquired protein C deficiency, it is important to treat the triggering conditions, such as underlying sepsis or liver disease. Furthermore, drugs that inhibit the formation of protein C must be discontinued.
Prevention
Prophylaxis against protein C deficiency is not possible because the condition is either congenital or caused by the most severe unpredictable disorders, such as sepsis. However, some other underlying conditions (for example, liver disease) could be prevented by a healthy lifestyle.
Follow-up
Whether congenital as a genetic defect or acquired through a disease event, follow-up care encompasses the entire lifespan of the patient. Various applications are used holistically as part of therapy to help affected individuals live as full a life as possible. This also applies if a causal therapy is hardly possible for various reasons. Children and older patients in particular feel heavily burdened by the pain symptoms, so it is advisable for sufferers or parents to seek psychotherapeutic support. A self-help portal for exchanging information with like-minded people also provides important support and serves to exchange information.The impaired hematopoiesis can lead to blood clots that require controlled medication. The responsibility of this demands a high level of attention from caregivers and parents of children with protein C deficiency. After all, deficiencies in the patient must be recognized quickly so that immediate action can be taken with the correct administration of medication. As a result, caregivers and parents are firmly involved in the follow-up care and learn in depth how to deal with this syndrome. In order for those affected and their relatives to keep their mental equilibrium and their own fitness in balance, various relaxation techniques such as autogenic training or yoga should be used regularly. A balanced diet with low-fat food and non-alcoholic beverages, if possible, supports the patient’s own body defenses.
What you can do yourself
It is imperative that patients with protein C deficiency undergo lifelong therapy, as their disease is fatal in the worst case scenario. The underlying disease of protein C deficiency must be found and treated. Even if a causal therapy is not possible, the symptoms can be alleviated with appropriate therapies. Nevertheless, protein C deficiency can be very stressful, especially if it leads to disturbed hematopoiesis and the sometimes painful hemorrhages cannot be completely prevented. Here, contact with other sufferers has proven helpful. However, there are no self-help groups for protein C deficiency patients; the disease is too rare for that. However, the self-help portal for rare diseases (www.orpha-selbsthilfe.de) can provide the latest information and contacts. Parents of affected children must realize that mishandling their baby can be fatal. They must be able to recognize deficiencies in their child and give an anticoagulant immediately. This responsibility often weighs heavily on parents. They should receive appropriate training and psychological support. Relaxation therapies such as yoga, autogenic training, or Jacobson progressive muscle relaxation are also advised.