A new study on the origins of hyperemesis gravidarum could bring some respite for pregnant women as it may provide insight into prediction and diagnosis of the condition.
The research, led by a team at the University of Southern California, offers further confirmation that abnormalities in the GDF15 gene contribute to the development of the severe nausea and vomiting which affects up to 2% of pregnancies.
Misdiagnosis and under-treatment
Hyperemesis gravidarum (HG) causes sickness so severe that it can lead to dehydration, nutrient deficiency, and problems with fetal development.
But HG has a long history of being misunderstood and consequently misdiagnosed and undertreated.
HG can be hereditary and most women who experience it in one pregnancy will have it again in subsequent pregnancies. This can have a serious impact on a woman's mental health.
The GDF15 gene
But a new study from a team of researchers at the Keck School of Medicine of USC and the Hyperemesis Education and Research (HER) Foundation has found that mutations or variants in the GDF15 gene are linked to HG.
The findings, published in March in BJOG: An International Journal of Obstetrics and Gynaecology, confirm earlier research linking the GDF15 gene to HG and may provide tools for predicting who might be at risk for HG and diagnosing the disease.
The breakthrough
It is hoped that healthcare professionals will ultimately be able to provide a quicker diagnosis, and even predict those who could potentially have the condition, possibly through genetic testing.
The paper's lead author and faculty researcher at the Keck School of Medicine, Marlena Fejzo, PhD said: “For generations it’s been thought that HG was either psychological in nature or caused by hCG pregnancy hormone, so this breakthrough leads us in a new direction.
"Our study provides compelling evidence that abnormalities in the GDF15 gene and the protein it codes for are the main cause of HG.”
Co-author and associate professor of clinical obstetrics and gynaecology at the Keck School of Medicine, Patrick M. Mullin, MD, MPH added: “Our hope is that understanding the genetic basis of HG will support the development of more targeted approach to treatment.”
Disclosure: Fejzo is a paid consultant for Materna Biosciences, Inc, which is developing a treatment for HG. Materna Biosciences, Inc may potentially benefit from the outcome of this research.