Therapy

The disease is based on an inherited genetic defect, which makes treatment difficult, as it is not possible to treat the underlying cause. Treatment is therefore mainly based on the patient’s condition, although symptom-free patients who have not yet suffered a thrombosis do not require permanent medication. However, in the case of a risk situation described above, they are advised to inform their treating physicians about the presence of the disease so that an adequate supply of anticoagulant drugs such as heparin can be provided.

In most cases, patients remain inconspicuous for years and the disease is not diagnosed until the first thrombosis occurs. This means, however, that these patients are advised to undergo therapy with an anticoagulant drug to prevent the formation of new clots. Since vitamin K is needed for the synthesis of important coagulation factors, the use of vitamin K antagonists (antagonist), such as Marcumar, is recommended for long-term treatment.

These displace vitamin K from the synthesis of the factors required for plasmatic coagulation, so that the missing inhibitory effect of protein S and C is no longer “important”. If a protein S deficiency is known to exist in pregnant women, closer observation and, if necessary, treatment with anticoagulant drugs is recommended during pregnancy to avoid the risk of thrombosis and associated pregnancy complications. Since the disease is not inherited coupled to the sex chromosomes, women and men are equally affected.

Furthermore, it is referred to as a dominant inheritance, since even a change on only one of the two responsible genes leads to the development of the deficiency. As a result, the probability of also carrying the genetic characteristic of a protein S deficiency is 50 percent for first-degree blood relatives (parents, children, siblings).However, since the deficiency in itself is not automatically associated with the development of a thrombosis, many patients are only recognized after decades. If the presence of a deficiency within the family is known, an examination of first-degree relatives, especially female family members of childbearing age, or before a therapy with estrogens (female sex hormones) may be quite useful. An examination is normally possible without any problems from the age of six months onwards, with the exception of “screening examinations” if there is a known case within the family.