Every time we cut ourselves and we damage a blood vessel, we obviously bleed; however, soon the bleeding stops. Why? At the damaged vessel`s level, there`s a blood clot, also known as thrombus, which clings to the actual blood vessel and stops the bleeding. Thrombus represents the result of a complex process of coagulation that involves particular proteins, enzymes and cells.
Table of Contents
What Is Thrombophilia?
Thrombophilia represents an abnormality that represents a group of disorders that lead to blood clotting. Those who suffer from thrombophilia tend to have blood clots more easily, mostly because their bodies have:
- Too much of certain proteins, which are known as clotting factors, or;
- Too little proteins against clots.
Thrombophilia can be inherited or may occur lately when being older. Around 15% of citizens of the U.S. have inherited this abnormality. To contact this infection is a rare phenomenon, but if it happens, it may lead to various risks during pregnancy.
How Does Thrombophilia Manifest?
Other consequences of the illness in youngsters might involve partial or total blindness, through thrombosis of retinal circulation. If experienced by women, the condition is of great relevance in a normal pregnancy`s development. When experience by men, they may produce various forms of impotence through thrombosis of blood vessels which irrigate the genital system and cavernous body.
The illness is relevant to youngsters, because there`re a series of risk factors in them that are relevant. Lots of them practice intense physical activities on a regular basis, such as hiking or diving, under high conditions of pressure, and hypoxia in association with thrombophilia may lead to accidental vascularity. Smoking represents a major factor of risk as well, along with contraception and pregnancy.
From the symptomatology point of view, in mold forms, these medical conditions don`t offer any specific symptom, the illness being able to be detected through an effort thrombosis of rare migraine episodes.
However, in more serious forms patients might experience of decreased limb motor ability, impaired visual field, and episodes of thrombosis and thrombophlebitis with an increased volume of calf or thigh, with decreased functionality and serious pain.
When vascular issues happen in the pulmonary circulation, the patient blames dyspnoea, as well as cardiac thrombosis with retrosternal and precordial pain.
A series of lab and imaging examinations are immediately required in these particular cases.
Types of Thrombophilia
Genetic thrombophilia includes:
- Factor V Leiden and prothrombin mutations – there are probably the most common types of inherited thrombophilia. They occur from 2% to 7% in Caucasians and more rarely in African-Americans and Asians.
- Antihrombin, protein C and protein S deficient. Each of them affects less than 1% of people in the U.S.
All these are inherited from an autosomal dominant pattern, meaning that an affected person must inherit the gene from one of her persons. Each child of an affected parent has 50% chances of inheriting thrombophilia.
The most common type of thrombophilia is antiphospholipid syndrome (APS). This occurs in around 5% of pregnant women. In the case of APS, it should be noted that it produces antibodies to attack certain fats (phospholipids), and sometimes clots may even occur. Syndrome designates an autoimmune disease, such as arthritis or lupus erythematosus. Up to 40% from women suffering of this disease have antibodies in the blood, which contribute to the increased risk of certain complications during pregnancy.
Tests
All pregnant women who previously had blood clots should make tests for diagnosing this medical abnormality. Experts may recommend doing these tests if:
- There`s a previous history in the family regarding thrombophilia before the age of 50.
- There`s a history of pregnancy complications, including 2 or more miscarriages after the week 10, fetal deaths, premature preeclampsia or other unexplained fetal growth problems.
- There`s a history of pulmonary thromboembolism or deep vein thrombosis.
- If a member of the family performed a genetic test and the result came out positive for hereditary thrombophilia.
Treatment
For now, there isn`t any specific treatment for this condition! The present principle of treatment is to offer a specific balance between pro-coagulant and anticoagulant factors. Regarding the measures taken additionally, it`s also advisable to change your lifestyle by simply changing the factors of risk that you can control (smoking, weight loss, etc).
This medical condition, although sometimes is genetically diagnosed, isn`t treated from the beginning unless lab tests show a high risk of developing thrombosis rather soon. The treatment is generally limited to taking aspirin regularly.
The class of medications that are used in patients with symptoms is represented by that of anticoagulants. Most patients are on oral anticoagulation therapy or warfarin, as well as under strict supervision of the attending doctor.
Pregnant women represent a special class, and although they are under correct treatment, some of them might experience many miscarriages until being able to carry a pregnancy until the end, some of them abandoning the idea of having a child naturally completely.
The treatment of the pregnant woman who experiences thrombophilia is Heparin taken daily through injections. Oral anticoagulants or warfarin may go through the placenta and reach the baby, but warfarin can be reintroduced into the treatment while nursing.
Evolution, Complications & Prevention
The evolutions and complications are in relation with the complexity of the condition, age, severity of symptoms, the existence of thrombotic occurrences with various localizations as well as their severity.
Prophylaxis
- Patients already diagnosed with this condition should avoid any risk factors which favor thrombosis, contraceptives, hypoxia conditions, smoking, prolonged immobilization, etc.
- Patients with a serious form of this illness as well as who have developed considerable thrombotic accident need to be taken into account for anti-platelet aggregation or chronic anticoagulation with coumarin.
Can Thrombophilia Affect the Way You Give Birth?
If there`re no contraindications and the baby has a weight that corresponds to the pregnancy age, depending on the case evolution, preferably you should talk to the gynecologist about a natural birth or C-section after week 38 of pregnancy. Injection treatment with heparin is stopped with over 12 hours before childbirth.
The presence of this medical condition doesn`t contravene with a natural birth, but the evolution need to be closely supervised. Since most of these pregnancies are hard to get, and followed by treatments which involve discomfort, most often the decision involves a C-section as any unwanted occurrences of the mother or baby are obviously easier to be controlled.
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