Antithrombin deficiency is a congenital hereditary disease. It increases the likelihood of thrombosis occurring. The deficiency also causes a decrease in concentration as well as activity.
What is antithrombin deficiency?
Congenital antithrombin deficiency was first described by Olav Egeberg in 1965. Antithrombin is a glycoprotein that has an inhibitory effect on blood clotting. It is formed in the liver and is part of the blood plasma. The blood consists of 55 percent blood plasma. It contains the non-cellular parts of the blood. The main function of plasma is to transport the cellular components of blood. The lack of antithrombin in blood plasma results in an increased risk of thrombophilia. This means that the coagulability of the blood is increased. In addition, the risk of thromboembolism increases. As soon as additional risk factors are present, such as an operation or an accident, thrombosis consequently occurs in sufferers. A blood clot forms in the blood vessel. This acts like a blood clot and blocks or obstructs the flow of blood. The blood clot is called a thrombus. It can also form in the heart and stop blood flow there. The clot can develop in any vein throughout the bloodstream, where it can back up the blood. This creates the risk of a heart attack or stroke.
Causes
The cause of antithrombin deficiency is due to a hereditary gene mutation. Antithrombin deficiency is a congenital genetic disorder that is inherited in an autosomal dominant manner. Due to the dominant inheritance of the disease, at least one parent automatically passes on the existing genetic defect to the child. As a result, there is no way to prevent the presence of antithrombin deficiency once the mutant gene is present in one parent. The dominant allele prevails in its trait expression over a recessive allele during the developmental phase of the embryo. As a result, the child is already born with an antithrombin deficiency. However, abnormalities or an immediate need for medical action are not to be expected directly after birth. However, this changes after the first decade of life. Up to now, thromboses have been diagnosed before the age of 40 in about 80 percent of those with the disease. Antithrombin deficiency is caused by mutations in the SERPINC1 gene. This is located in the hereditary strand on chromosome 1 (1q23-q25.1).
Symptoms, complaints, and signs
Due to the congenital genetic defect, there is a deficiency of antithrombin in the blood since the beginning of life. Therefore, thrombosis can theoretically develop immediately after birth. Patients suffer from deep vein thrombosis. Often, their etiology cannot be conclusively determined. A sign of the presence of protein dysfunction may be lack of sleep. Incipient thrombosis is not necessarily accompanied by symptoms in the first stage. Signs of existing thrombosis depend on the affected part of the body where it occurs. Signs are often only readily noticeable on the legs. A feeling of tightness or heaviness occurs on the limbs. The skin usually feels warmer in the affected area. Its coloration changes to a reddish or bluish color. In addition, it is somewhat shiny. Some patients report pulling pain. The discomfort resembles that of a sore muscle. Since the overall activity of the blood is reduced due to the lack of antithrombin, sufferers increasingly document numbness in the fingertips or toes. They are more sensitive to cold effects in these areas.
Diagnosis and course
The diagnosis is made after venous blood sampling. Once the patient presents with strikingly frequent thromboses, a blood test is performed to provide clarity. Antithrombin deficiency results in recurrent thromboembolism throughout life. The intervals of recurrence are variable and depend on other factors.
When should you see a doctor?
In most people, antithrombin deficiency usually exists immediately after birth due to a genetic defect and is thus detected at a very early age. Affected individuals present with venous thromboses that are relatively severe.If the antithrombin deficiency has not been diagnosed by then, a doctor should be consulted if the thromboses are clearly visible or if the patient suffers from sleep deprivation. It is not uncommon for antithrombin deficiency to also lead to heavy extremities, so that there may be restrictions in movement. Similarly, the skin in the affected areas may also be very warm and, in some cases, painful. A bluish or reddish coloration of the affected area may also be a sign of antithrombin deficiency. Furthermore, a doctor should also be consulted if numbness or muscle soreness occurs even though no particular activity or exertion has been performed. Temperature differences are also more noticeable in the affected areas in most cases. As a rule, the diagnosis of antithrombin deficiency can be made by a general practitioner. Further treatment is then usually provided by an orthopedic surgeon.
Treatment and therapy
Because antithrombin deficiency is due to a genetic defect, it cannot be treated directly. If the patient has not experienced any symptoms to date, he or she will not require permanent medication. However, he will receive an explanation of the risks. The treatment of the lack of the body’s own anticoagulants, is done through the administration of drugs. Their action is aimed at reducing blood clotting. Their content is a vitamin K antagonist. After thrombosis, a patient suffering from the antithrombin deficiency is permanently discontinued from the medication. This is to reduce the recurrent risk of thrombosis. In women, it is recommended that ovulation inhibitors such as the birth control pill or other estrogen preparations be discontinued. Smokers are offered therapy options to kick the habit. In the further course of therapy, the patient and his close relatives are trained in the administration of heparin injections. These substantially reduce the incidence of thrombosis.
Outlook and prognosis
Because antithrombin deficiency is a congenital condition, there is no chance of permanent relief or cure without medical care. No changes in the deficiency are to be expected in the natural healing process. The genetic defect can also not be cured by the administration of a drug or in an operation. An intervention in the genetics of the human being is not permitted according to the current scientific possibilities and legal circumstances. Nevertheless, there is a possibility that the patient will not show any symptoms or impairments in the course of his life. A symptom-free life is possible with antithrombin deficiency. After the diagnosis, the treatment plan includes a comprehensive education of the patient about his health and the first signs of a health problem. If these indications are followed, there is a very good chance of alleviating the existing symptoms and preventing and curing thrombosis. At the first signs of discrepancies, the patient is given blood clotting medication. The medicine has a quick effectiveness, so that normally there is a cure within a few days or weeks. As a preventive measure, long-term medication may be required after treatment of thrombosis. Depending on the circumstances, this may be for months or several years.
Prevention
The sufferer is given adequate information about the disease and is usually given heparin injections to provide initial treatment in the event of thrombosis. Other preventive measures include avoiding prolonged standing or sitting. An adequate amount of fluids should always be consumed. Diet should be balanced and smoking avoided. Contraceptives should be avoided whenever possible. It is important to take care not to constrict the veins. This happens when he knees are bent sharply or the legs are crossed for a long time. For long trips or after surgery, it is recommended to wear compression stockings.
Aftercare
Antithrombin deficiency is due to a genetic defect. This is not curable. Patients must cope with the disease for the rest of their lives. Thus, the focus of aftercare cannot be to prevent recurrence of the cause. Rather, the aim is to spend everyday life as far as possible free of symptoms and complications. A blood test provides clarity about the presence of the antithrombin deficiency.Medications that reduce blood clotting are suitable for alleviating the typical symptoms. Patients are responsible for taking the prescribed medication. If necessary, the dosage is adjusted after a consultation with a doctor. Everyday life holds a variety of risks for those affected. They can take preventive measures on their own responsibility. Prolonged standing and sitting in particular can lead to the familiar complaints. Private and professional life must be adapted accordingly. Extensive travel in particular poses a great risk, as it is usually done in a sitting position. Thrombosis stockings prevent the formation of blood clots in this case. It is scientifically recognized that smoking promotes antithrombin deficiency, as does an unbalanced diet. Sufficient fluid intake has a positive effect on the course of the hereditary disease. Women should be aware that taking the contraceptive pill increases the risk of thrombosis. A gynecologist can point out alternatives to contraception if necessary.
Here’s what you can do yourself
In the case of antithrombin deficiency, the affected person should reconsider behaviors and lifestyle choices that promote thrombus formation. Smoking or comparable stimulants should be avoided as a matter of principle. In addition, no postures should be adopted in which blood vessels may be constricted. Sitting in positions in which little movement is possible or rigid postures adopted over several hours are also not conducive to maintaining one’s health. Blood pools and can quickly lead to the formation of a thrombus. Before taking certain medications or choosing the appropriate contraceptive method, pay attention to the individual side effects. For example, there is an increased risk of thrombosis when taking the birth control pill. Sufficient and regular exercise and a well-functioning circulatory system are helpful in cases of antithrombin deficiency. The blood circulation can be stimulated independently within a short period of time by various training units. Wearing thrombosis stockings during long journeys by car, train or plane prevents the formation of blood clots. At the same time, clothing or accessories that could cause blood to pool should be avoided. The affected person can pay attention to the intake of sufficient fluids in everyday life. Adults should drink two liters daily during normal exertion and outside of a heat wave.
