Thrombophilia: Description, Causes and Risk Factors: A disorder of the Hemopoietic system in which there is a tendency to the occurrence of thrombosis. ThrombophiliaThrombophilia is a term used to describe a group of conditions in which there is an increased tendency, often repeated and often over an extended period of time, for excessive clotting. Thrombophilia is a very common medical problem. It is estimated that approximately 9.7 million people experience thrombophilia each year Worldwide. In addition, nearly half of patients with thrombophilia experience long-term health consequences that adversely affect their quality of life and billions of dollar expenditure in their Treatment & Care. Thrombophilia is the reverse side of the process of blood clotting compared to hemophilia. While people with hemophilia have an increased tendency to bleed, people with thrombophilia have an increased tendency to clot. Just as hemophilia is caused by an abnormality of a blood clotting factor, some forms of thrombophilia are also caused by an abnormality or deficiency of a blood-clotting factor. In some cases these clotting factors may have an abnormality that leads to an increase in their function (such as factor V Leiden). The body's natural process of blood clotting is altered in thrombophilia. Whenever there is an injury to the blood vessel, the blood platelets will act fast to create blood clotting thus preventing loss of blood and this process is called hemostasis. Number of factors and chemicals are involved in the above process of blood clotting. Thrombophilia is likely to be congenital (by birth) and is inherited from parents. It can also be of the type called acquired thrombophilia wherein the person will get this problem due to underlying medical issues. If the coagulant factors and chemicals are overactive, it can also trigger the process of blood clot. Acquired thrombophilia is caused due to anti-phospholipid syndrome developed by lupus anticoagulant and anti-cardiolipin coagulant. All these are categorized under autoimmune disorder wherein body's natural defense system will attack the healthy cells and antibodies. Hemolytic anemia can also trigger this disorder due to loss of RBCs. Sickle cell disease in which there is mutation of hemoglobin can also cause this problem. Malignant carcinomas increases the risk of thrombophilia and similarly nephritic syndrome can also cause this disease. The disease is more common in White, Hispanic, and Jewish descents. Symptoms: Often, thrombophilia is mild and many people do not experience any health problems.You will only have symptoms if thrombophilia results in a blood clot.Warning signs of a blood clot: People with thrombophilia are particularly at risk of developing a DVT. Warning signs of a DVT are pain, swelling and a heavy ache in a leg.
  • Sometimes, part of the blood clot can break away and travel through the blood circulation system and lodge in the lungs, causing a pulmonary embolism (PE). A PE is a serious and potentially life-threatening condition, as it can prevent blood from reaching your lungs.
  • Warning signs of a PE are chest pain or shortness of breath.
Diagnosis: Diagnosis based on a demonstrated genetic mutation such as, CBC with peripheral smear.
  • Prothrombin time (PT).
  • Activated partial thromboplastin time (aPTT; using a thromboplastin that is relatively sensitive to the presence of a lupusanticoagulant).
  • Thrombin time and reptilase time (to detect a heparin or direct thrombin inhibitor effect, and to screen for dysfibrinogenemia).
  • Lupus anticoagulant panel (to include at least two phospholipid-dependent clot-based assays that interrogate at least two ofeither the intrinsic [sensitive aPTT], extrinsic [dilute prothrombin time] or common [Russell's viper venom clotting time, Ecarin/Textarin clotting times] procoagulant pathways, along with mixing studies to show inhibition and "confirm" studies [e.g., platelet neutralization procedure, hexagonal phase phospholipid] to show phospholipid-dependentinhibition).
  • Anti-cardiolipin and anti-?2 glycoprotein 1 antibodies (IgG and IgM isotypes).
  • Activated protein C (APC)-resistance ratio (second generation; "factor V-deficient plasma" mixing study).
  • Fibrinogen, soluble fibrin monomer complex and quantitative plasma fibrin d-dimer (to screen for intravascular coagulation andfibrinolysis [DIC]).
  • Prothrombin G20210A mutation genotyping (direct genomic DNA mutation testing).
  • Plasma homocysteine (basal).
Coagulation Laboratory Testing: Factor V Leiden mutation genotyping (if the APC-resistance ratio is abnormal [low]; direct genomic DNA mutation testing).
  • For patients with idiopathic or recurrent venous thromboembolism; a first episode of venous thromboembolism at a "young" age;a family history of venous thromboembolism; venous thrombosis in an unusual vascular territory; neonatal purpura fulminansor warfarin-induced skin necrosis:
    • Anti-thrombin activity (followed by anti-thrombin antigen level if the activity is low).
    • Protein C activity (followed by protein C antigen level if the activity is low).
    • Protein S activity (followed by free protein S antigen level if the activity is low. The total protein S antigen level may behelpful if the free protein S antigen is low).
  • Flow cytometry for paroxysmal nocturnal hemoglobinuria [PNH].
  • Plasma ADAMTS-13 activity (for acquired or familial thrombotic thrombocytopenic purpura).
  • Plasminogen activity (for ligneous conjunctivitis/gingivitis).
  • Heparin-induced thrombocytopenia testing (plasma anti-PF4/glycosaminoglycan antibodies [ELISA]; platelet C-serotonin release assay; heparin-dependent platelet aggregation).
  • Quantitative PCR assay for JAK-2 mutation (for splanchnic or portal vein thrombosis).
Other Tests: ESR, chemistries, PSA, ?-hCG, CA-125, ANA, (dsDNA, RF, ENA).
  • Chest x-rayposteroanterior and lateral view, urinalysis, mammogram, CT, MRI, and respective ENT evaluation for Smokers & Tobacco users.
  • Colon imaging, especially if no prior screening (proctosigmoidoscopy, colonoscopy).
  • UGI/upper endoscopy.
  • Abdominal imaging (CT).
  • Endometrial biopsy if endometrial cancer suspected.
  • Angiography.
Treatment: People with thrombophilia don't always need treatment, as it can be very mild and not cause any problems. Treatment is necessary if you go on to develop a blood clot - you'll need treatment for the blood clot and treatment to prevent any further clots from developing. You may need to take warfarin tablets or a heparin injection. Warfarin and heparin are anticoagulants (anti-clotting medicine). They interfere with the clotting process and are commonly used to treat or prevent a DVT or PE. If you just need an anticoagulant to prevent a clot, you will be prescribed warfarin. If you need instant treatment for an existing clot, you will usually be given a heparin injection (which works straight away) as well as warfarin tablets for the first few days. This injection will either be given in hospital or at home. A heparin injection may also be given to people with anti-phospholipid syndrome before and after surgery or during pregnancy. Unlike warfarin, heparin is safe to take in Pregnancy. Women with thrombophilia should avoid taking the combined oral contraceptive pill or hormone replacement therapy (HRT), as these will increase your risk of a blood clot further. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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