Thrombophilia I82.9

Acquired or genetically determined tendency to form thromboses or embolisms as a result of altered properties of corpuscular or plasmatic parts of the blood, of blood flow and/or vessel walls

One distinguishes acquired thrombophilia from hereditary thrombophilia.

I. Primary thrombophilia in genetic disorders:

• APC resistance (factor V Leiden)
• Antithrombin Deficiency
• Mutation of the MTHFR gene
• Prothrombin mutations
• protein C deficiency
• protein S deficiency
• ATIII deficiency
• Hyperhomocysteinemia
• Disturbed fibrinolysis.

II Secondary thrombophilia in acquired risk factors:

• Overweight (obesity)
• Smoking
• Lack of exercise
• Contraceptives containing oestrogen
• Pregnancy
• Immobilization through diseases, e.g. operations
• Heart Failure
• Malignant diseases (especially chronic myeloproliferative neoplasias)
• Lupus anticoagulant
• nephrotic syndrome

• Congenital thrombophilia in:
• APC resistance in factor V Leiden mutation: Most frequent cause of thrombophilia in patients with thrombosis. Factor V is a part of the coagulation chain where the coagulation system can be slowed down externally. This is done by the activated protein C (APC). In the Factor V Leiden mutation, Factor V becomes resistant to protein C due to the mutation; the coagulation system can no longer be inhibited at this point. This can lead to excessive clotting and thus to thrombosis.
• Protein C and Protein S deficiency: The activated protein C inhibits the coagulation chain at factor V (see above). Protein S increases this inhibition. A defect or lack of these factors can therefore lead to excessive clotting.
• ATIII deficiency: Antithrombin (ATIII) is one of the most important coagulation system inhibitors, it can inhibit several steps of the coagulation chain simultaneously.
• Prothrombin mutation: The prothrombin mutation leads to an increase in certain coagulation-promoting factors and thus to a shift in the balance towards blood coagulation.
• Hyperhomocysteinemia: Clinical experience has shown that high blood homocysteine levels lead to thrombosis much more frequently than normal levels.
• Disturbed fibrinolysis: A disturbance of the blood clot-dissolving system (fibrinolysis) is possible due to various factors. This results in a shift in the balance towards blood clotting.

• Remember! A Factor V Leiden mutation is present in about 20-40% of cases (the younger the patients, the greater the probability of a mutation), hyperhomocysteinemia in 18-25% of cases, a prothrombin mutation in 2-8% of cases, a protein C or protein S deficiency in 1.5-3% of cases, an ATIII deficiency in 0.5-1% of cases, disturbed fibrinolysis in about 20% of cases.

• Acquired thrombophilia (causes/risk factors):
• Lupus anticoagulant and antiphospholipid antibodies in autoimmune diseases
• Malignancies and nephropathies
• severe heart disease (heart failure)
• advanced age
• Estrogen therapy
• Longer bedtime (> 7-10 days)
• longer air or bus trips (travel thrombosis)
• serious injuries and operations
• inflammatory bowel disease
• Overweight, varicose veins, former thromboembolism
• lack of fluid intake, especially in older people
• Pregnancy (a normal pregnancy increases the risk of thrombosis by about 5 times, shortly after birth this risk is increased to 25 times)

• In case of medium and higher risk, prophylaxis with medication is necessary. Prophylactic drug treatment is recommended in risk situations such as pregnancy, puerperium and breastfeeding, during operations, in the event of prolonged bedriddenness and long flights.
• In higher risk situations, especially in the case of multiple thromboses, lifelong preventive treatment with heparins or Marcumar is necessary.

• For all patients with thrombophilia, consultation and, if necessary, regular care, preferably by a specially trained doctor or a coagulation outpatient clinic, is important. The extent of preventive measures depends on the level of risk.
• If the risk is low, physical thrombembolic prophylaxis is sufficient. This should be carried out by all risk groups. It comprises 3 pillars:
• Thrombosis prophylaxis stockings
• Vein gymnastics
• Risk reduction through avoidance strategies.
• Risk reduction through avoidance strategies:
• Avoid heat above 28 °C: no exposure to sunlight or use of sauna, no hot water bottles or heating pads, no hot baths.
• Avoid standing and sitting activities of > 1 hour.
• Daily measurement of the circumference of the legs at the ankle and calf (edema).
• In case of leg oedema: Raise legs at night. The foot end of the bed should be raised.
• Cold showering of the legs, especially the feet and lower legs, if possible twice a day. Water temperature: 16-18 °C. The showering time should be 5-10 minutes.
• No lifting of heavy loads; no excessive pressing (e.g. weight training or constipation).
• Light sports activities are possible e.g. running, swimming, cycling.
• Avoid sports with a high risk of injury (football, squash, tennis).
• For endurance running, make sure you drink enough: never run thirsty, older people should drink 2 litres regardless of how thirsty they feel (thirst decreases with age).
• In case of new complaints, especially long-lasting muscle ache in the legs (> 2-3 days), coughing, shortness of breath, dizziness lasting several days, consult your family doctor.
• Drink enough, especially during the warm season, at least 2 l/day.
• Wear suitable shoes with flat heels.