What is preeclampsia and what role does genetics play?

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Preeclampsia is a vascular disorder that arises in 3-5% of all pregnancies after 20 weeks gestation. It is usually linked to complications for both mother and baby and there is a known association between preeclampsia and genetics.

It is manifested by the development of hypertension in women who previously had normal blood pressure or by worsening of pre-existing hypertension. Premature delivery is often recommended, although the timing depends on the severity of the condition and the stage of pregnancy.

Symptoms of preeclampsia

Although the main symptom is high blood pressure, preeclampsia can be accompanied by many other symptoms such as:

  • Excess protein in the urine (proteinuria).
  • Increased liver enzymes indicating liver problems.
  • Decreased levels of platelets in the blood (thrombocytopenia).
  • Severe headaches.
  • Changes in vision including temporary loss of vision, blurred vision or sensitivity to light.
  • Difficulty in breathing..
  • Pain in the upper abdomen.
  • Nausea or vomiting.
  • Sudden onset of edema, especially on the face and hands.
Preeclampsia and genetics

What triggers preeclampsia?

Small parts and molecules leaving the placenta, such as compounds that inhibit or reduce the formation of new blood vessels from pre-existing vessels (anti-angiogenic factors), are thought to trigger endothelial dysfunction involving altered function of the inner lining of blood vessels.

The endothelium plays an important role in the regulation of blood pressure and coagulation. This is why such an alteration manifests as symptoms of maternal preeclampsia.

Preeclampsia and genetics

There are genetic variants associated with preeclampsia. These variants are located in genes affecting endothelial dysfunction, placental development and hypertensive diseases. The latter implies that genetic risk factors for preeclampsia are shared with other hypertensive disorders, as well as with the risk of hypertension later in life.

Protein in the urine (proteinuria) is a key feature of preeclampsia caused by abnormal leakage of protein into the urine. Genes such as PLCE1, TNS2, ACTN4 are associated with nephrotic syndrome (kidney disorder) characterised by high protein in the urine. In addition, ACTN4 gene is known to regulate the proliferation and differentiation of cells called trophoblasts whose function is vital for the embryo as they surround it in its early stages of development and help form the placenta.

And you? Do you have genetic variants associated with an increased risk of preeclampsia? Find out with ADNTRO's genetic tests.

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