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One of the biggest complications an expecting mother can face in late pregnancy, preeclampsia is a serious condition accounting for approximately 15% of premature deliveries in the U.S.[1] What makes preeclampsia an even more complex issue is the fact that it is often a silent enemy, preceded by little to no symptoms. However, affected women often experience headaches, impaired vision, swelling, and the primary tell-tale symptom: high blood pressure.
While preeclampsia has been heavily researched, its exact causes remain a mystery. However, different factors, including genetic background, contribute to its development. This in-depth guide will define preeclampsia, its symptoms, and its causes, with a focus on the genetic component.
Preeclampsia is a condition that usually occurs after 20 weeks of pregnancy, but it can also appear during the postpartum stage. While it develops around 20 weeks, diagnosis typically isn’t possible until after 34 weeks. Since it can be rather serious, even life-threatening in some cases, the severity of the condition determines the time of delivery to avoid further complications.[2]
In the case of mild preeclampsia, it isn’t necessary to deliver earlier than expected. The mother’s and baby’s states are monitored closely, especially the mother’s blood pressure. Delivery is usually delayed until 37 weeks, which is crucial for fetal development.[2]
However, patients diagnosed with severe preeclampsia usually require immediate hospitalization and treatment. In most complicated cases, preterm delivery is the only solution to ensure both the mother and the baby don’t suffer any severe consequences.[2]
If preeclampsia is caused by abnormal development of the placenta, which is one of the primary causes, it is possible for it to manifest only after the delivery. Postpartum preeclampsia is triggered by the lingering inflammation that remains even after the placenta has been delivered.[2]
Preeclampsia in itself represents a major health risk both for the mother and the child. There are, however, complications that can arise from this situation, including[4]:
Affecting 4–5% of pregnant women globally[3], preeclampsia is a pressing issue. Unfortunately, the pathogenesis of this condition is complicated and requires much more research for definitive answers.
Symptoms, on the other hand, are well-known and usually easily detected[4]:
Symptoms like weight gain and swelling are typical for a normal pregnancy. However, sudden and excessive changes do call for immediate attention. This is precisely why pregnant women are advised to never miss their regular prenatal checkups and schedule appointments whenever something feels out of the ordinary.
The underlying mechanisms of preeclampsia are complex and not fully understood. However, some known factors related to the development of preeclampsia exist, one of them being the placenta.[4]
The placenta is an organ that develops in the womb, connected directly to the developing fetus by the umbilical cord. It is through this cord that the necessary nutrients and oxygen are delivered to the fetus.
For this process to work seamlessly, new blood vessels develop early on in the pregnancy. These blood vessels are pathways through which essential nutrients and oxygen are distributed to the placenta. However, in cases of preeclampsia, it has been noted that these blood vessels are either undeveloped or dysfunctional.Either way, problems in blood circulation eventually result in blood pressure issues in the mother, leading to preeclampsia.[4]
Women who run a higher risk of developing preeclampsia include those with kidney disease, autoimmune disorders, type 1 or 2 diabetes, chronic hypertension, or have experienced the condition in a previous pregnancy.[4]
Recently, there has been a pronounced interest in the genetic component of preeclampsia. Can a woman’s genetic background determine her chances of developing preeclampsia?
A study on the genetics of preeclampsia clearly recognizes that this disorder has a significant genetic component.[5] The same study suggests that genes also play a significant role in the development of other hypertensive disorders. While no particular gene has been pinpointed as the main culprit, the genetic risk factor for preeclampsia development is undeniable. The study also recognizes preeclampsia as a “complex genetic disorder.”[5]
A maternal family history of preeclampsia is also a strong indicator. A survey found that a family history of this condition on the maternal side increases susceptibility by up to 115%. The timing of preeclampsia onset also plays a significant role in this process.[6]
The data suggest that a maternal family history of preeclampsia increases the chances for its development by[6]:
There have been many speculations regarding the paternal factor in developing this condition. While paternal family history is not as significant as maternal, it is worth mentioning and researching. Cases of preeclampsia in the father’s family can increase the risk of intermediate-onset preeclampsia by 45% and the chances of late-onset preeclampsia by 12%.[6]
A family history of preeclampsia isn’t the only factor that determines susceptibility to this pregnancy complication. A 2020 study[7] found that a genetic predisposition to hypertension could lead to preeclampsia development in pregnant women.Moreover, the same study recognized five gene variants associated with an increased risk of developing this condition.
Naturally, women with higher polygenic risk scores for blood pressure are more susceptible to preeclampsia, especially a more severe form. A study concludes that there is strong evidence supporting the role of genetic variants in preeclampsia etiology and development.[8]
Both maternal and fetal genetics play a role in the risk of developing preeclampsia, but specifying the “responsible” genes involved has proven difficult. Traditional genetic research methods have not consistently identified these key genes.[9]
However, recent advancements like genome-wide association studies (GWAS) are making a significant difference. For instance, a notable GWAS examining over 7 million genetic variants has found a significant link between preeclampsia risk and a region near the FLT1 gene on chromosome 13.[9]
This gene encodes a protein called soluble Fms-like tyrosine kinase 1(sFLT1). Preeclampsia is marked by high blood pressure and protein in the urine, and the FLT1 protein plays an important role in these conditions by blocking factors that encourage blood vessel growth. Therefore, it suggests that an excess of FLT1 in the mother's blood is crucial to the onset of these symptoms.[9]
Preeclampsia is a potentially life-threatening pregnancy complication that should not be neglected. Luckily, with timely checkups and consistent monitoring, it can be prevented or properly managed, depending on the stage. While physiological and environmental factors play a part in preeclampsia development, the genetic aspect cannot be ignored.
Future genetic studies should be able to pinpoint the genes and their variations that increase the risk for this condition, making prevention even easier. Exploring your family’s medical history could provide much-needed insight and aid in managing risk factors and potential complications.
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