Protein C deficiency

Protein C is part of a complex system that regulates blood clotting. It is a vitamin K dependent protein. As part of hemostasis, it controls the blood clotting process. At a Protein C deficiency can this be disturbed.

What is Protein C Deficiency?

A Protein C deficiency has a great impact on blood clotting. Protein C has the task of deactivating the blood clotting factors FV and FVIII. If this is not deactivated, blood clots will form. 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 anti-inflammatory effects. At the same time, it stabilizes the inner vascular wall of the blood vessels and inhibits programmed cell death.The main task of Protein C is to prevent the blood from clotting uncontrollably in uninjured areas in the event of an injury.

In the event of an 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. This complex represents the actual anticoagulant. A deficiency in protein C therefore leads to increased formation of blood clots and thrombosis.

causes

Protein C deficiency can be both congenital and acquired. The severe congenital protein C deficiency is a very rare disease. This form of protein C deficiency is genetic and affects one in 200,000 newborns. The symptoms sometimes only become noticeable in young adulthood. In some cases, however, the fetus can already be affected, which can lead to thrombosis of the fetus and miscarriages.

The genetic defect can be either homozygous or heterozygous. In the homozygous form, the clinical symptoms are more severe. The acquired protein C deficiency is caused either by a reduced production of the protein by liver diseases or by its increased breakdown as a result of bacterial sepsis, among other things.

An acquired deficiency in protein C also arises with coumarin treatment. Coumarin treatment is used to reduce clotting. Overdosing can lead to skin necrosis, which in turn causes protein C deficiency. Since vitamin K is a prerequisite for the formation of protein C, a vitamin K deficiency also leads to a reduced production of protein C.

Symptoms, ailments and signs

The severity of the symptoms of a protein C deficiency depends on the concentration of protein C in the blood. If its concentration is only slightly reduced, there are no symptoms. With greatly reduced concentrations of protein C, microthromboses occur, which clog the smallest blood vessels in the skin and organs. This creates tiny bleeding in the skin that cannot be pushed away.

These are known as petechiae. In the further course of the disease, the petechiae flow into each other, forming a large, coherent area. This process is known as purpura fulminans. In the course of purpura fulminans, the areas of the skin affected by micro-blockages die. This is a very painful process that can turn out to be extremely unfavorable.

As a result of the microthrombi, tissue cells die off in many other organs in addition to the skin. In the worst case, this results in multiple organ failure with a fatal outcome. The congenital protein C deficiency leads to increased thrombosis in the veins in newborns. These infants are also at risk of atypical thrombosis in the brain or intestines.

Diagnosis and course of disease

If a protein C deficiency is suspected, the blood will be examined for the level and activity of protein C as part of a blood test. First, the activity of the protein is determined. This should be between 70 and 140 percent. Protein C deficiency is diagnosed at activity levels below 70 percent.

However, if the protein has an activity that is below 20 to 25 percent, treatment should be started 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.

The normal range for the protein C concentration is around two to six milligrams per liter. To clarify whether there is a congenital or acquired deficiency, the condition of the liver, the amount and type of medication taken and the vitamin K concentration are examined.

Complications

Due to the protein C deficiency, those affected in most cases suffer from impaired blood clotting. This has a very negative effect on the quality of life and can lead to various complaints and complications in the everyday life of the person concerned. As a rule, small hemorrhages occur directly on the skin. These are often painful and cannot simply be pushed away.

The internal organs can also be affected by bleeding due to the protein C deficiency, so that in the worst case, the patient's organ failure. Thromboses can also be discounted 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 for this disease is also possible.

If there is no treatment, the protein C deficiency can lead to irreversible damage to the internal organs. The treatment itself takes place with the help of medication and can alleviate the symptoms. However, those affected are mostly dependent on lifelong therapy if causal treatment is not possible. As a rule, it cannot be universally predicted whether the protein C deficiency will lead to a reduced life expectancy.

When should you go to the 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. In the case of mild complaints, it is sufficient to give the child the necessary proteins intravenously. Serious illnesses can lead to thrombosis and other complications that require intensive care. The acquired protein C deficiency manifests itself through symptoms such as fatigue and malaise in the child. In addition, it can lead to circulatory disorders and skin changes.

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. In addition, a nutritionist can be called in. Since the protein C deficiency is a serious disease that is a major burden for parents and children alike, therapeutic support is important. Parents should contact the responsible doctor and consult them closely during and after treatment.

Therapy and Treatment

In the case of an acute deficiency in protein C, protein C must be administered directly via an infusion to avoid microthromboses with possible organ failure. This treatment restores the microcirculation in the capillaries. This normalizes the acutely life-threatening condition again.

Especially in infants with a congenital protein C deficiency, this treatment method is the only way to prevent a fatal outcome. The rapid administration of heparin as another anticoagulant overlaps the period of protein C deficiency. In the case of an acquired protein C deficiency, the triggering diseases such as underlying sepsis or liver disease must be treated. In addition, drugs that inhibit the formation of protein C must be discontinued.

prevention

A prophylaxis against protein C deficiency is not possible because the disease is either congenital or caused by very serious, unforeseeable disorders such as sepsis. However, some other underlying medical conditions (such as liver disease) could be prevented by leading a healthy lifestyle.

Aftercare

Whether congenital as a genetic defect or acquired through a disease event, follow-up care covers the entire life span of the patient. As part of the therapy, various holistic applications are used so that those affected have a life that is as fulfilled as possible. This also applies if a causal therapy is hardly possible for various reasons.

Children and elderly patients in particular feel stressed by the pain symptoms, so it is advisable to seek psychotherapeutic assistance as the person affected or as a parent. A self-help portal for exchanging ideas with like-minded people also offers important support and serves to exchange information. The disturbed blood formation can lead to blood clots, which require controlled medication.

The responsibility for this demands a great deal of attention from caregivers and parents of children with protein C deficiency. After all, deficiencies in the patient must be recognized quickly in order to be able to react immediately with the correct administration of medication. This means that caregivers and parents are firmly involved in aftercare and learn how to deal with this syndrome in detail.

Various relaxation techniques such as autogenic training or yoga should be used regularly so that those affected and their relatives can keep their mental equilibrium and their own fitness in balance. A balanced diet with low-fat food and non-alcoholic drinks supports the patient's own defenses.

You can do that yourself

Patients with a protein C deficiency must undergo lifelong therapy, as their disease can be fatal in the worst case scenario. The underlying condition of protein C deficiency needs to be identified and treated. Even if causal therapy is not possible, the symptoms can be alleviated with appropriate therapies.

Nevertheless, the protein C deficiency can be very stressful, especially if it leads to impaired blood formation and the sometimes painful bleeding cannot be completely prevented. Contact with other sick people has proven helpful here. However, there are no self-help groups for protein C deficiency patients; the disease is too rare for that. The self-help portal for rare diseases (www.orpha-selbsthilfe.de) can also provide the latest information and contacts here.

Parents of affected children must realize that incorrect treatment of their baby can be fatal. You must be able to recognize deficiencies in your child and give them an anticoagulant immediately. This responsibility often weighs heavily on parents. You should receive appropriate training and psychological support. Relaxation therapies such as yoga, autogenic training or Jacobson's progressive muscle relaxation are also recommended.