Thrombophilia is a pathological condition characterized by an excessive tendency towards hypercoagulability (to form blood clots). They usually appear as a result of a hereditary predisposition and are based on defects in coagulation proteins or those with anticoagulant role.

Thrombophilia has an increasing importance in the following pathologies:

  - cardiology: infarcts at young age without associated risk factors, sudden death;

  - neurological: thrombotic-ischemic strokes without an apparent cause, migraines;

  - ophthalmologic: thrombosis at the retinal circulation level;

  - gynecological and obstetrical;

  - infertility;

  - pathological pregnancy;

  - premature birth

  - urological: some forms of impotence.

Risk factors: clinical manifestations of thrombophilia may be triggered or favored by:

• smoking;
• pregnancy through various mechanisms;
• contraceptive administration;
• prolonged recumbent body position;
• pituitary gland (diving, altitude, etc.).

Laboratory investigations.

Mostly, thrombophilia is not highlighted by common tests (standard blood count, biochemistry tests –glucose, transaminases, coagulogram, etc.) and requires some additional laboratory investigations:

The following investigations are performed at the Invitro Diagnostics Medical Laboratory:

Screening of acquired thrombophilia:

• Lupus anticoagulant
• Homocysteine
• Screening of hereditary thrombophilia:

  Determination of genetic polymorphisms:

• F2 gene / prothrombin (factor II of coagulation)
• F5 gene / proaccelerin (factor V of coagulation)
• F7 gene / proconvertin or convertina (factor VII of coagulation)
• F13A1 gene / fibrinase (factor XIII of coagulation)
• FGB gene / fibrinogen (factor I of coagulation)
• ITGA-a2 gene / integrin (platelet receptor for collagen)
• ITGB3-b3 gene / integrin (platelet receptor for fibrinogen)
• PAI-1 gene / serpin (antagonist of tissue plasminogen activator)

The thrombophilia diagnosis is based on the data obtained from:

       - anamnesis (discussion with the patient) that insists on:

       - heredo-colateral antecedents (in the family

       - personal pathological antecedents  

Noteworthy are asymptomatic thrombophilia, which does not occur and can be detected occasionally (screening for pregnancy, screening before contraceptive prescribing). Usually, in women, these forms of illness are diagnosed either before a pregnancy or during pregnancy when pregnancy evolution has aspects changed from the normal.

Medical recommendations:

The presence of some suggestive manifestations of thrombophilia makes the patient to come to various specialists:

- neurology, manifestations as – stroke, asymmetric muscle weakness, migraines, etc.;

- cardiologist – cardiac ischemic disease, arterial or venous thrombosis;

- ophthalmology – sudden decrease in visual acuity;

- gynecologist – pregnancy pathology, loss of pregnancy.

It should be noted that in the event of platelet events, after the initial evaluation according to the specialty, a hematological consultation is recommended. In young patients it is mandatory to discuss thrombophilia in the etiology of some platelet events.