Thrombophilia

What is Thrombophilia?

Thrombophilia is a condition characterized by a tendency for blood clotting disorders that can lead to the formation of clots in various parts of the body.

BASIC CASES OF OCCURRENCE – INDICATIONS – SIGNIFICANCE

Blood clots can form due to a combination of factors, including:

Autoimmune diseases and environmental factors
Genetic factors

Indications of thrombophilia may include:

Personal history of thrombophlebitis, ischemic episodes, recurrent miscarriages
Family history of strokes, myocardial infarctions, thromboembolisms

Thrombophilia tests are recommended for individuals who:

Have a personal or family history of thrombosis
Meet high cardiovascular risk criteria (smoking, hypertension, dyslipidemia, obesity, etc.)
Are about to use contraceptives or have high-risk pregnancies – recurrent miscarriages

Successful diagnosis and preventive treatment are crucial for overall body safety.

LABORATORY BLOOD TEST

Initially, thrombophilia is diagnosed through biochemical analyses that detect coagulation disorders by measuring specific coagulation factors.

Further analysis is achieved through:

Immunological testing to detect potential autoimmune factors causing thrombophilia
Genetic testing to identify inherited genes causing thrombophilia

A. Biochemical Testing

Measures basic coagulation factors and key indicators of endovascular inflammation associated with thrombophilia:

Platelets (Plt): Cells responsible for blood clot formation and hemostasis. Increased levels, often observed in inflammatory processes, indicate a higher risk of clot formation.
Prothrombin Time (PT – INR): An initial test of blood clotting time under laboratory conditions. If low values are detected indicating hypercoagulability (INR < 1.00), Then it is suggested to repeat the test and possibly to conduct supplementary tests. (INR
Partial Thromboplastin Time (APTT): Complementary to PT-INR, measuring blood clotting time in lab conditions. Prolonged APTT times are associated with autoimmune diseases causing thrombophilia.
Fibrinogen (Fibr): Essential for normal clot formation and hemostasis. Elevated levels indicate a higher likelihood of clot formation It is increased in inflammatory conditions (and smoking) causing cardiovascular diseases.
D-Dimers: Breakdown products of fibrinogen and clots possibly formed recently. Elevated levels indicate an ongoing thrombotic state and increased thromboembolism risk.
Homocysteine (Hcy): An indicator of endovascular inflammation. High levels can result from vitamin deficiencies, smoking, obesity, or genetic factors. It is an irritant to blood vessels, correlating with the likelihood of clot formation.

B. Immunological Testing

If initial testing (e.g., high APTT) is inconclusive, further examination seeks sources of thrombophilia from immune system disorders and autoimmune diseases. Key tests include:

Proteins S and C (PrS and PrC): Reflect the immune system status. Low levels suggest possible long-term immune system depletion (potential chronic autoimmune disease) and increased clot formation risk.
Lupus Anticoagulant (ptt-la): Detects autoimmune lupus, an independent risk factor for thrombotic events.
Anticardiolipins (aCL IgG, aCL IgM, aCL IgA): Autoantibodies responsible for antiphospholipid syndrome These autoantibodies affect blood vessels, activating platelets, and increasing clot formation risk.

C. Genetic Testing for Thrombophilia

Considered by many as a primary cardiovascular risk test for the general population. Analysis is essential in cases of:

Clarifying unexpected biochemical test results (e.g., high homocysteine, fibrinogen, D-dimers)
High-risk pregnancies (older age), infertility, or recurrent miscarriages
Unexplained personal or family history of cardiovascular diseases – thromboembolisms

We recommend the CVD 20 research package, analyzing 20 genes.

No specific preparation or special diet is required for these analyses, and blood sampling can be done at any time of the day.

Blood collection can be performed at any time during the day (laboratory hours: 7:30 a.m. – 7:30 p.m.).

Biochemical analysis results: Same day Immunological analysis results: Within 3 days Genetic testing results: Within 15 days Charges

According to our latest update biochemical and immunological tests (excluding aCL IgA) are prescribed through EOPYY, with the patient’s co-payment as specified by the referral (15%, unless otherwise stated).

For genetic analyses, only the MTHFR gene is covered by EOPYY.

The cost of analyses with private coverage is determined according to the level of the check-up. For reference, this is:

Level A Test: €77 (with a 25% package discount, excluding fibrinogen and homocysteine) = €64

Level B Test: €134 (with a 25% package discount) = €100.50

20-Gene Genetic Test: €180

Selected information with sources:

MayoClinic.org
Labtestsonline.org
Interpretation of Diagnostic Tests – J.Wallach

The personalization of check-up considers multiple parameters of personal and family history.

Depending on the case, the selection of tests may require some not mentioned on this page.

The exact selection is the responsibility of your attending physician.

Edited by: Ioannis Gratsias, Lab Director / Clinical Biochemist

e – Booking via Doctor Anytime at: Cardiologist – Neurologist– Diagnostic Tests

Informative Blogs: checkup.com.gr – nosileftis24.gr– syntagografisis.gr – testcovid.gr

Biopathology Diagnostic Center – Athens | Medical Center Check Up Medicus | Checkup – Allergy Test – Blood Tests – Prices – Cost – Covid-19 Test | EOPYY.

Panormou Diagnostic Center 40, Ampelokipoi | Diagnostic Center Alexandra Avenue 110 | Diagnostic Center Prykiponnision 24, Gyzi Polygono Kypseli

At Check-Up Medicus you can come for a blood draw without an appointment

Thrombophilia is often identified as a hereditary or acquired tendency for an increased risk of thrombosis, representing a significant challenge in the health sector. It is recognized that this condition affects individuals predisposed to developing pathological blood clots, often causing serious complications. The indications for thrombophilia screening are decided based on the individual’s history and the presence of family cases of thrombosis.

Importance of Thrombophilia Screening

Highlighted as a critical step in preventive care, thrombophilia screening forms the basis for avoiding serious complications such as deep vein thrombosis and pulmonary embolism. The screening process focuses on identifying individuals at increased risk, allowing for the timely implementation of preventive measures.

Thrombophilia Tests

Various types of tests are identified for detecting thrombophilia, including genetic tests, coagulation tests, and risk factor analyses. These tests play a crucial role in the accurate diagnosis and understanding of the underlying cause of thrombophilia.

Management and Prevention

Emphasis is placed on the value of risk management, aiming to prevent the occurrence of clots. Therapeutic approaches, lifestyle changes, and the importance of continuous monitoring are examined to achieve optimal management of the condition.

Conclusions and Future Prospects

In conclusion, the importance of recognizing and managing indications for the prevention and treatment of thrombophilia is emphasized. Ongoing research and advancements in medical knowledge are expected to improve diagnostic and therapeutic methods, offering hopes for even more effective protection and care for individuals with thrombophilia.

References and Sources

Mayo Clinic. (n.d.). Factor V Leiden. https://www.mayoclinic.org
Mayo Clinic. (n.d.). Coagulation Disorders Group – Overview. https://www.mayoclinic.org

Thrombophilia

What is Thrombophilia?

BASIC CASES OF OCCURRENCE – INDICATIONS – SIGNIFICANCE

Thrombophilia tests are recommended for individuals who:

Successful diagnosis and preventive treatment are crucial for overall body safety.

LABORATORY BLOOD TEST

A. Biochemical Testing

B. Immunological Testing

C. Genetic Testing for Thrombophilia

INFORMATION ON LABORATORY TESTING

Your tests with analytical systems and reagents top quality SIEMENS-USA BECMAN COULTER-USA

PREPARATION

RESULTS

DELIVERY TIME RESULTS

CHARGES

Biopathology Diagnostic Center | Athens

Appointment

Importance of Thrombophilia Screening

Thrombophilia Tests

Management and Prevention

Conclusions and Future Prospects

References and Sources

Diagnostic Center Panormou

Diagnostic Center Alexandras

Diagnostic Center Prigkiponisson

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