Genetic Diseases


Inherited Thrombophilias

Introduction

Inherited Thrombophilia is a genetic disease that causes abnormal blood clots. It is also called hypercoagulability due to defect in the system of blood-coagulation in the body. The causes behind the disease are chiefly genetic the syndrome is genetically acquired which leads to severe blood clots known as “thrombosis”. These blood clots occur due to faults in the blood-clotting protein known as “factor V”. As yet, cutting edge treatment for the disease has not development but nevertheless efforts are on to build a long-term coagulation-prevention mechanism through concrete medication.

Causes

The following are the possible causes of inherited Thrombophilia:

  • Factor V Leiden- Factor V Leiden is one of the most widespread causes of the disease. An error in the factor V gene increases tendencies of abnormal blood-clotting at unusual places in the body. This result from mutation in the factor V gene called “Leiden mutation”. Leiden factor V increases risks of still birth, pregnancy loss, retardation etc.
  • Prothrombin (Factor II) G2021A- It involves change or mutation in factor II gene which leads to venous clots. This can cause heart attack, cerebral attacks, due to abnormal blood coagulation.

Symptoms

Thrombophilia can be identified in a patient by virtue of its typical signs and symptoms. The most common symptoms associated with the syndrome are as follows:

  • Venous thromboembolism (VTE) – It refers to two conditions known as deep vein thrombosis and pulmonary embolism and they mostly show blood-clots down the legs which are characterized by pain, inflammation and reddening of the limb.
  • Blood coagulation in lungs- Blood clots in lungs are characterized by chest pain and palpitation which can even lead to a severe collapse or cardiac arrest.
  • Clots at unusual places- Abnormal clotting in the liver, brain, kidney and arteries. These symptoms can intensify leading to severe health damages.

Thrombosis tests

There are various tests available to verify error in factor V and factor II genes that may cause thrombosis. While sometimes, the tests are not necessary in case temporary blood clotting that disappears naturally, in specific cases, the test becomes absolutely necessary.

Tests for Thrombophilia should be recommended for:

  • Females consuming oral contraceptives and therapies for hormone replacement with thrombosis
  • People experiencing frequent and painful blood coagulation (venous thrombosis)
  • Women giving birth to babies suffering from still birth or retardation
  • Women suffering from repetitive pregnancy loss
  • Women experiencing blood coagulation during pregnancy
  • Individuals below 50 years of age with venous thrombosis
  • Female smokers who have experienced heart attack below the age of 50.
  • Unusual sites in the body with venous thrombosis.
  • Relatives of individuals showing signs of clotting.
  • Individuals having relatives suffering from factor V Leiden

Precautions

Screening of the disease is useful which helps timely identification of the disorder. However, often such screening is not recommended chiefly because of the following factors:

  • Symptoms of the disease seen in the general population are not that pronounced.
  • Carriers of the disease normally show low level indicative conditions.
  • Absence of cost-efficient, long term solution in case any abnormal traces are discovered.

Treatment

Before opting for treatment for Thrombophilia, it is very essential to sort out few issues with the doctor. They are: kind of Thrombophilia you are diagnosed of, family history in case any of your relatives have had traces of blood-clots, pregnancy related issues, weight, age, and details about other medications.

This information must be cleared out between you and your doctor so that the doctor can properly assess your condition and the severity of your clots. This will enable the doctor to prescribe you the appropriate treatment.

The following are the most common treatment for Thrombophilia:

  • Anticoagulants - Medication to resist blood coagulation is a common treatment. The most frequently recommended anticoagulants are heparin and warfarin. These drugs slow down the process of clotting in the blood. While heparin is available as injections, warfarin is sold in the form of tablet; both their dosage amounts vary with varying cases.
  • Treatment during pregnancy – During pregnancy, any form of blood coagulation can prove to be harmful for the baby often causing still births, retardation etc. Aspirin if consumed then, a low dosage is recommended during pregnancy to avoid chances of miscarriage. Anticoagulant treatment should begin either during pregnancy or immediately after childbirth to prevent possibilities of deterioration of symptoms.
  • Heparin in pregnancy – During pregnancy, normally heparin is a safer option as against warfarin because the latter often show side effects in the baby born.

Thus, Thrombophilia is a potential threat to individuals. Apart from medication which is ofcourse essential, you need to take few precautions on your part. Avoid dehydration and drink loads of fluid. Do not opt for random treatment since it can open doors to dangerous side effects that may worsen your condition. Be aware of the disease, its pros and cons in order to land up with the right medication.

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