Protein C deficiency

In the case of protein C deficiency , a decreased activity or concentration of protein C in the plasma due to congenital (congenital) or acquired diseases leads to increased coagulability of the blood and thus to the development of blood clots .

Effect of protein C

As far as we know today, a total of five functions of protein C contribute to a protective effect:

• Protein C acts as an anticoagulant by inactivating the two factors Va and VIIIa.
• Protein C keeps inflammation in check because it inhibits the inflammation- promoting cytokines interleukin 1 and 6 and the tumor necrosis factor α (alpha).
• Protein C supports fibrinolysis (dissolution of the fibrin in a blood clot). If used in good time, the fibrin deposits are dissolved again in a short time by purpura fulminans and tissue death ( necrosis ) can be avoided.
• Protein C stabilizes the endothelium (inner wall of the blood and lymph vessels). The cellular balance is restored.
• Prevents cells from dying too quickly by inhibiting programmed cell death .

Types of protein C deficiency

Congenital protein C deficiency

The severe congenital Protein C deficiency is a rare disease that strikes only one of 200,000 newborns and is genetic. The symptoms can become noticeable in the first few days of life, but also in young adulthood. Both the homozygous defect (both genes carry the error) and the heterozygous defect (only one gene is defective) are clinically relevant, ie in need of treatment. During pregnancy, both defects can lead to miscarriages or thrombosis of the fetus in the womb.

Acquired Protein C Deficiency

The acquired protein C deficiency is caused by a particular disease event. With acquired protein C deficiency, either the production of protein C is disturbed (e.g. liver disease) or the consumption of protein C increases extremely (e.g. due to bacterial sepsis ). The levels of circulating protein C are at a similarly low level as the levels of patients with congenital protein C deficiency.

Purpura fulminans

The purpura fulminans is the clinical picture (the visible and in need of treatment condition) of the severe congenital or acquired protein C deficiency and is caused by blood clots in the microcirculation. This is followed by bruises in the tissue. The purpura fulminans is expressed by non-raised, small, round, purple-colored reddening of the skin. The severity of the symptoms corresponds to the extent of the protein C deficiency. Serious symptoms requiring treatment are to be expected if protein C levels are below 20 to 25 percent of the normal protein C value. If the protein C concentrates in the form of a medicament for injection are not treated within a few hours, the tissue dies. Amputations up to a failure of all organs and death can result. The underlying protein C deficiency can either be congenital or, e.g. B. by meningococcal sepsis (bacterial blood poisoning).

At the moment there are hardly any clinical studies that have been able to prove the effectiveness of drugs on the development of purpura fulminans . A single clinical database collects data on the incidence of the disease and current therapy options.

See also

• Hereditary combined deficiency of vitamin K-dependent coagulation factors
• Sanarelli-Shwartzman reaction

literature

• P. Knöbl: Protein C - Current importance in intensive medicine. 1st edition. UNI-MED, 2004, ISBN 3-89599-764-1 .

Individual evidence

1. ↑ pubmeddev: Home - PubMed - NCBI. Retrieved July 5, 2017 . 
2. ↑ Home | Sapfire. Retrieved July 5, 2017 (American English). 

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !