Hereditary thrombophilia, ie coagulation disorders, are
generally some diseases in which blood tends to clot with simple
identification. Problems such as blood clotting due to blood clotting
(thromboembolism), clot formation in organs such as heart, lung and brain,
pregnancy resulting in miscarriage or stillbirth or intrauterine development
retardation. Here, the problems of hereditary thrombophilia related to
pregnancy will be explained. In patients with hereditary thrombophilia, an
increase in pregnancy loss is observed, but in people with "carriers"
of thrombophilia, there is no increase in pregnancy losses.
Hereditary thrombophilia are congenital diseases that can
pass from generation to generation due to genetic disorders and are acquired
from birth. There are also non-racial, non-congenital acquired types of
thrombophilias (such as antifhospholipid antibody syndrome).
The risk of congestion due to clot formation in these
patients increases in conditions such as trauma, immobility, surgery, using a
pill, pregnancy, cancer. It is absolutely inconvenient for patients with
thrombophilia to use the pill.
Hereditary
thrombophilia:
- Antithrombin III deficiency
- Protein C deficiency
- Protein S deficiency
- Factor V Leiden mutation
- Activated protein C resistance (Usually due to Factor V
Leiden mutation)
- Prothrombin (Factor II) gene mutation
- MTHFR gene mutation (Methylene tetrahydrofolate reductase)
- Hyperhomocysteinemia
- Thrombomodulin mutation
- Factor 12 deficiency
Antithrombin III deficiency is the most thrombogenic of
hereditary thrombophilic diseases, and patients are at risk of experiencing
more than 50% thromboembolic events (vascular occlusion) for life.
There is no clear information that the prothrombin gene
mutation or thrombomodulin gene mutation is responsible for poor pregnancy
outcomes.
Diagnosis:
Some tests are performed in patients who have vascular
occlusion at an early age, those with vascular occlusion in their family, those
with recurrent miscarriages or stillbirths, and those with preeclampsia or
developmental retardation that start in the early months of pregnancy.
These tests
are: Antithrombin III, Protein C, Protein S, Activated protein C
resistance (Factor V Leiden mutation research if positive), Lupus
anticoagulant, Anticardiolipin antibodies.
While total protein S level does not change during pregnancy,
free protein S level decreases. It should be remembered that Activated protein
C resistance (incorrectly suggesting factor V Leiden mutation) increases during
pregnancy. These tests should be done during the non-pregnancy period. There is
no change in functional and antigenic protein C levels during pregnancy.
Treatment:
Since those with antithrombin III deficiency are at the
highest risk of developing thromboembolism, they are always treated with a full
dose of heparin (anticoagulant) during their pregnancy. Prophylactic
(preventive) heparin therapy can be given to other patients with hereditary
thrombophilia before pregnancy if there is a history of thromboembolic event or
a poor pregnancy history such as miscarriage. Aspirin therapy is also often
added to heparin therapy. Treatment is continued orally for 6 weeks after
birth.
Given that 70% of women with Antithrombin III (AT III)
deficiency will have thrombosis during pregnancy, it seems reasonable to treat
these women with heparin during their pregnancy. Comparing to antithrombin
deficiency, protein C and Protein S deficiency, Factor V Leiden and Prothrombin
gene mutation have controversial administration with heparin during pregnancy,
if there is no thromboembolic event or bad pregnancy history. If women with
hereditary thrombophilia have a history of recurrent miscarriage, empirical
treatment with heparin and aspirin is recommended in their pregnancies, but
more studies are reported to clarify this situation, since the relationship
between hereditary thrombophilia and recurrent miscarriages has not been proven
so far with studies performed to date. Therefore, the treatments given are not
evidence based, but empirical.
Thrombophilia patients are treated with heparin if a
condition such as vascular occlusion develops at any time other than gestation.
In cases where the risk of developing vascular occlusion increases, such as
pregnancy, surgery, or immobility, prophylactic heparin treatment is initiated
in advance.
-HYDRONEFROZE IN MOTHER OF PREGNANCY
-APPENDICE SURGERY IN PREGNANCY
-ASTHMA IN PREGNANCY
-LUMBAR DISC HERNIA IN PREGNANCY
-THROMBOSIS AND EMBOLISM DURING PREGNANCY
-DENTAL CARE IN PREGNANCY
-CANCER IN PREGNANCY
