Protein S deficiency is the name given to an acquired or congenital blood disorder. Protein S deficiency increases the risk of so-called leg vein thrombosis. In many cases, the disease goes unnoticed for years; preventive measures, due to the fact that it is a hereditary disease, are unknown. Preventive measures are de facto not mgölich; as a rule, only the complaints and symptoms – if the disease has been diagnosed – can be alleviated.
What is protein S deficiency?
Protein S deficiency is a congenital disorder of the blood clotting system that results from a lack of protein S, an anticoagulant protein. Protein S deficiency is a fairly rare condition; just 0.7 to 2.3 percent of the population suffers from the form of the disease. Protein S is produced in the liver and, due to the anticoagulant factors, causes limited clot formation at sites where vascular injuries have occurred. If there is a deficiency of the protein, however, the blood clot formations predominate, so that the affected person must expect more and more clot formations within his intact blood vessels than a person who does not have a protein S deficiency. This circumstance provides an increased risk of leg vein thrombosis occurring.
Causes
If the deficiency is due to a genetic defect, there is a 50 percent chance that it will be passed on. However, protein S deficiency can also be caused by so-called vitamin K deficiency, chronic infections, use of ovulation inhibitors or vitamin K antagonists, and liver disease. Subsequently, inflammations, burns, sepsis or polytrauma can also be responsible for the development of protein S deficiency. However, acquired protein S deficiency is relatively rare; predominantly, it is the inherited gene defect or the so-called spontaneous mutation, when a gene defect is present but it has not been inherited.
Symptoms, complaints, and signs
In many cases, patients notice protein S deficiency between the ages of 15 and 45. Women in particular, who are not yet aware of their condition, notice recurrent problems with protein S deficiency when thrombosis – vascular occlusion – occurs in the deep veins of the legs. Risk factors such as hormone preparations for menopausal symptoms or the contraceptive pill are mainly responsible. Sometimes pregnancy can also be a reason why physicians detect a protein S deficiency. In men, too, a diagnosis usually follows by chance, sometimes when thrombosis has already occurred. However, if it is known that the protein S deficiency is inherited or if there is a possibility of inheritance, initial tests can be carried out at an early age to determine whether a protein S deficiency is present or not. If there are no symptoms or complaints, the doctors will not perform such tests – if there is no genetic defect in the family. As a rule, if there is a possibility of inheritance, examinations are performed in childhood so that preventive measures can be taken that do not stop or change the course or the disease, but sometimes do not allow complications – with regard to leg vein thrombosis – in the first place.
Diagnosis and disease progression
The physician can diagnose the disease based on a blood analysis of the patient. If an increased tendency to clot is suspected, the physician draws blood and analyzes it using laboratory techniques. In this way, anticoagulant factors in the blood can subsequently be analyzed, which can sometimes indicate a protein S deficiency. Other possibilities are not available to the physician. It should be noted that the diagnosis is often made only by chance. As a rule, patients contact their doctor for other reasons, such as when a leg vein thrombosis has occurred and needs to be treated. Sometimes protein S deficiency can also be diagnosed – even if only by chance – when the patient is pregnant. In the course of various preliminary examinations, it is possible that the physician makes the diagnosis of protein S deficiency.
Complications
In most cases, protein S deficiency is detected relatively late.In the worst case, thrombosis has already occurred, so that urgent treatment is necessary. The protein S deficiency itself is usually inherited genetically, so that counseling should be carried out before planning a pregnancy. There are usually no particular complications other than thrombosis of the leg veins. These can be treated, however, so that the life expectancy of those affected is usually not affected by this disease. The treatment of the disease itself is carried out with the help of medication. Complications do not occur and the drugs usually have no side effects. Furthermore, the affected persons are also dependent on wearing special stockings. The thrombosis itself can lead to significant restrictions in the patient’s movement. The patient may then be dependent on the help of other people in his or her everyday life. Unfortunately, it is not possible to prevent protein S deficiency. However, it should be diagnosed at an early stage if the relevant information about the course of the genetic material is known. In this way, thrombosis can be prevented.
When should you go to the doctor?
Because protein S deficiency does not heal itself and, in most cases, significantly reduces the patient’s quality of life, this condition must always be treated by a physician. Early diagnosis and treatment always have a positive effect on the further course of the disease and can prevent various complications. The doctor must be consulted in any case if thrombosis occurs. Likewise, various complications can also occur during pregnancy due to protein S deficiency. If the patient suffers from the disease and is pregnant, the visit of a doctor is highly recommended. Thrombosis can develop, especially in the leg veins, so it should be treated at an early stage. In most cases, the general practitioner can detect the protein S deficiency and also treat it. Since this is a hereditary disease, genetic counseling can also be performed to prevent the disease from being passed on to the next generation.
Treatment and therapy
Because protein S deficiency is due to an inherited genetic defect, treatment difficulties sometimes exist because there is no treatment of the cause, only alleviation of symptoms. For this reason, therapies are mainly based on the patient’s health status. However, patients who have no symptoms and have not yet suffered a thrombosis will not usually be prescribed permanent medication. However, patients are certainly advised that – when risk situations occur – to inform the medical professional so that preventive measures can be taken. Patients may be able to be treated with heparin, an anticoagulant medication. Support stockings are also beneficial for longer distances. If the patient knows that he or she is suffering from protein S deficiency, preventive measures are available. In many cases, these are more helpful than those treatment options that are mainly used only to alleviate symptoms. In many cases, protein S deficiency goes unnoticed; for years there are no symptoms or complaints. For this reason, physicians often do not diagnose protein S deficiency until the first thrombosis has already occurred. Longer-term treatment, for example with so-called vitamin K antagonists, is advisable if several thromboses have already been diagnosed. Incidentally, the vitamin K antagonists include Marcumar, probably the best-known preparation when it comes to an anticoagulant effect.
Prevention
Because protein S deficiency is a hereditary disease, there are no known preventive measures. Once protein S deficiency has been diagnosed, only preventive measures can be taken to positively influence the course of the disease.
Follow-up
To minimize the risk of leg vein thrombosis, it makes sense after successful therapy for protein S deficiency to have the blood values checked regularly by an experienced physician. In this way, renewed complications with blood clotting can be detected early and treated promptly with medication. As with other thrombotic diseases, protein S deficiency can easily lead to liver disease.It is recommended that alcohol consumption be severely restricted and, at best, avoided completely. In vascular medicine, those affected receive useful dietary recommendations and valuable advice on how to proceed in an acute emergency. During pregnancy, thromboses can easily develop due to the additional physical stress. Pregnant women with protein S deficiency should be sure to inform their gynecologist about their blood disorder and strictly follow the instructions of the attending physician. Sufficient exercise and daily walks can help prevent venous thrombosis from forming. Since sufferers often also have a vitamin K deficiency, doctors frequently recommend taking special dietary supplements as a preventive measure. In most cases, it is not possible to compensate for this deficiency through dietary intake alone. The long-term use of anticoagulants such as low-dose aspirin should always be discussed with the physician in charge. The use of hormone preparations containing estrogens should be avoided if possible. These drugs are often prescribed for pregnancy prevention (“anti-baby pill”) or for menopausal symptoms. Drugs containing estrogens additionally lower the protein S concentration in the blood.
