Protein S deficiency is 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 are not known due to the fact that it is a hereditary disease. In fact, preventive measures are not possible; as a rule, only the complaints and symptoms – once the disease has been diagnosed – can be alleviated.
What is Protein S Deficiency?
Protein S deficiency is an inherited disorder of the blood clotting system that occurs due to a lack of protein S, an anticoagulant protein. Protein S deficiency is a fairly rare disease; just 0.7 to 2.3 percent of the population suffer from this form of the disease. The protein S is formed in the liver and subsequently, due to the anticoagulant factors, ensures limited clot formation in those places where vascular injuries have occurred. See gradphysics for Kashin-Beck Disease in English.
If there is a deficiency of the protein, however, blood clot formation predominates, so that the affected person must expect more and more clot formation within their intact blood vessels than a person who does not have a protein S deficiency. This circumstance increases the risk of venous thrombosis occurring in the leg.
Causes
If the defect is based on a genetic defect, the probability that it will be passed on is 50 percent. Protein S deficiency can also be caused by a so-called vitamin K deficiency, chronic infections, the use of ovulation inhibitors or vitamin K antagonists, and liver diseases.
As a further consequence, inflammation, burns, sepsis or polytrauma can also be responsible for the development of protein S deficiency. However, acquired protein S deficiency is relatively rare; It is mainly an inherited gene error or the so-called spontaneous mutation, when a gene error is present but not inherited.
Symptoms, Ailments & Signs
In many cases, patients notice the protein S deficiency between the ages of 15 and 45. Especially women who are not yet aware of their disease repeatedly notice problems with the protein S deficiency when a thrombosis – the vascular occlusion – occurs in the deep veins of the legs.
Above all, risk factors such as hormone preparations against symptoms during menopause or the birth control pill are responsible. Sometimes pregnancy can also be a reason why doctors detect a protein S deficiency. In men, too, an accidental diagnosis usually follows, even if a thrombosis has already occurred.
However, if it is known that the protein S deficiency was inherited or there is a possibility of it being inherited, the first tests can be carried out as early as adolescence or childhood to determine whether a protein S deficiency is present or not. If there are no symptoms or complaints, the doctors – if there is no genetic defect in the family – will not carry out any such examinations.
As a rule, if there is a possibility of inheritance, examinations are carried out 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 any complications at all – with regard to leg vein thrombosis.
Diagnosis & course of disease
The doctor can diagnose the disease based on a blood analysis of the patient. If there is a suspicion that there is an increased tendency to coagulation, the doctor takes blood and analyzes it within the scope of laboratory technology. In this way, anticoagulant factors in the blood can subsequently be analyzed, which sometimes indicate a protein S deficiency.
Other options are not available to the physician. It should be noted that the diagnosis is often made by accident. As a rule, patients contact their doctor for other reasons; For example, if a leg vein thrombosis has developed and it needs to be treated. Sometimes the protein S deficiency can be diagnosed – even if only by chance – when the patient is pregnant. As part of various preliminary examinations, it is possible for the doctor to diagnose protein S deficiency.
Complications
In most cases, protein S deficiency is recognized relatively late. In the worst case, a thrombosis has already occurred, so that urgent treatment is necessary. Protein S deficiency itself is usually genetically inherited, so counseling should be done before planning a pregnancy.
Apart from thrombosis of the leg veins, there are usually no special complications. However, these can be treated 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 drugs. There are no complications and the drugs usually have no side effects.
Furthermore, those affected are also dependent on wearing special stockings. The thrombosis itself can lead to significant limitations in the patient’s movement. The patient may then be dependent on the help of other people in his everyday life. Unfortunately, it is not possible to prevent protein S deficiency. However, this should be diagnosed at an early stage if the relevant information about the course of the genetic material is known. This can prevent thrombosis.
When should you go to the doctor?
Since a protein S deficiency does not heal itself and in most cases there is a significant reduction in the patient’s quality of life, this disease must always be treated by a doctor. 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 with this disease in any case, if it comes to the formation of thrombosis. A protein S deficiency can also lead to various complications during pregnancy.
If the patient suffers from the disease and is pregnant, a visit to a doctor is highly recommended. Thrombosis can form, especially in the veins of the legs, so it should be treated early. In most cases, the general practitioner can diagnose and treat the protein S deficiency. Since this condition is an inherited condition, genetic counseling can also be done to prevent the disease from being passed on to the next generation.
Treatment & Therapy
Since the protein S deficiency is based on an inherited genetic defect, there are sometimes treatment difficulties, since the cause cannot be treated, only alleviation of the symptoms is possible. For this reason, therapies are mainly based on the patient’s state of health.
However, patients who do not have any symptoms and have not yet suffered from a thrombosis will usually not be prescribed any long-term medication. However, patients are well advised that – if risky situations arise – to inform the medical professional so that preventive measures can be taken. Patients may be able to be treated with heparin, an anticoagulant drug.
Compression stockings are also an advantage on longer journeys. If the patient knows they are suffering from Protein S deficiency, preventive measures are available. In many cases, these are more helpful than those treatment options that are mainly used to alleviate symptoms. In many cases, Protein S deficiency goes unnoticed; for years there are no symptoms or complaints. For this reason, doctors often only diagnose a protein S deficiency when the first thrombosis has already been identified.
Long-term treatment, such as with so-called vitamin K antagonists, is advisable if several thromboses have already been diagnosed. By the way, one of the vitamin K antagonists is Marcumar, probably the most well-known preparation when it comes to an anticoagulant effect.
Prevention
Since protein S deficiency is a hereditary disease, no preventive measures are known. Once a protein S deficiency has been diagnosed, only preventive measures can be taken to positively influence the course of the disease.
Aftercare
In order to minimize the risk of leg vein thrombosis, it makes sense to have the blood values checked regularly by an experienced doctor after successful therapy for protein S deficiency. In this way, renewed complications with blood coagulation can be recognized early and treated immediately with medication. As with other thrombotic diseases, protein S deficiency can easily lead to liver disease. It is advisable to limit alcohol consumption severely and, at best, to avoid it completely.
In vascular medicine, those affected receive useful nutritional recommendations and valuable information on how to proceed in an acute emergency. During pregnancy, the additional physical strain can easily lead to thrombosis. Pregnant women with protein S deficiency should definitely tell their gynecologist about their blood disease and strictly follow the doctor’s instructions.
Getting enough exercise and taking daily walks can help prevent venous thrombosis from forming. Since there is often a vitamin K deficiency in those affected, doctors often recommend taking special dietary supplements as a preventive measure. A balance cannot usually be guaranteed through food intake alone.
The long-term use of blood-clotting drugs such as low-dose aspirin should always be discussed with the doctor treating you. Taking hormone preparations that contain estrogens should be avoided if possible. These medicines are often prescribed to prevent pregnancy (“anti-baby pill”) or to deal with symptoms of menopause. Drugs containing estrogen also lower the protein S concentration in the blood.
