Preexisting Fabry disease pain worsens during pregnancy: Study

Preeclampsia, preterm births more likely for women with the genetic disease

Steve Bryson, PhD avatar

by Steve Bryson, PhD |

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A pregnant woman sporting a ponytail cradles her belly with both hands while walking.

Pregnancy increased the severity and frequency of pain among women with Fabry disease who lived with moderate pain before becoming pregnant, a study from Austria reported.

Further, preeclampsia, or dangerously high blood pressure during pregnancy, occurred three times more often in Fabry women than in the general population, according to the study. Babies born to mothers with Fabry also were more likely to be born preterm, smaller, and have a lower birth weight.

Overall, however, “despite a substantial number of high-risk pregnancies, neonatal outcomes were acceptable in this study on Fabry disease,” the researchers wrote.

Still, “our data provides valuable information for pregnancy counseling in patients with Fabry disease,” the team wrote.

The study, “Pregnancy outcomes of Fabry disease in Austria (PROFABIA) — a retrospective cohort-study,” was published in the Orphanet Journal of Rare Diseases.

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Study examined pregnancy-related symptoms in patients in Austria

Fabry disease is a rare genetic disorder that mainly affects the nervous system, heart, and kidneys. While male patients are generally more severely affected, females with Fabry can experience a broader range of symptom severity.

Studies suggest that Fabry-related symptoms may worsen during pregnancy, with a greater likelihood of patients experiencing digestive problems, numbness and tingling, elevated urinary protein, known as proteinuria, and headaches. Complications such as gestational diabetes and high blood pressure also may occur more frequently in pregnant Fabry women as compared with those in the general population.

Now, a team led by researchers at the Medical University of Vienna sought to further examine symptoms related to Fabry, focusing on pain, in women with the disease with a history of pregnancy.

“For the first-time we have analyzed the delivery outcomes of these women in detail,” the team wrote.

Data were collected using a study-designed questionnaire, and from the Austrian Mother-Child Health Passport, a program in the country that tracks pregnancy-related health data of the mother and child from pregnancy until the child’s 5th year of life.

A total of 44 women with Fabry, with a median age of 44, enrolled in the study. In all, 32 had a history of 70 pregnancies, with 61 pregnancies resulting in 64 live births between 1971 and 2021. Among the babies born, half were girls and half boys.

During the 61 pregnancies with successful outcomes, 24 women (39.3%) smoked. Four women (6.6%) developed gestational diabetes, 10 (16.4%) had high blood pressure, and 17 (27.9%) had proteinuria.

Preeclampsia occurred three times more often during a Fabry pregnancy than in the general population (11.5% vs. 3.8%), the researchers noted.

Nearly all participants (86%) reported symptoms likely related to Fabry disease, with pain, burning and tingling, and gastrointestinal symptoms as the most common. There were no differences noted between women with and without a history of pregnancy.

Fabry women with a history of pregnancy were older (median 48 vs. 24 years) and more frequently experienced other symptoms related to the heart, kidney, lungs, and nervous system. The women with Fabry also experienced more psychiatric problems.

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Fabry disease pain can manifest in a variety of ways

Pain no worse during pregnancy for Fabry disease women with prior low pain

Importantly, Fabry women with low levels of pain before pregnancy did not experience worse pain during pregnancy. In contrast, however, those with moderate pain before pregnancy reported an increase in pain intensity or frequency during the gestational period.

When compared with the Austrian birth registry, children born to mothers with Fabry were significantly more likely to be preterm, meaning they were born before 37 weeks gestation. These babies also had a lower birth weight and were smaller more than twice as often. Inpatient hospital stays for a newborn also occurred more frequently in those born to mothers with Fabry.

Compared with the general population, pregnancy in Fabry did not appear to affect the type of delivery (vaginal or C-section), the number of twin pregnancies, and postpartum mortality.

Our study in women with Fabry disease shows an increase of pain burden during pregnancies in those with pre-existing moderate pain.

As of 2021, the median age of descendants was 21.4 years. Genetic testing detected a mutation in the GLA gene, the underlying cause of Fabry, in 32 descendants, while 24 tested negative; eight remained untested. Among those with a GLA mutation, 11 received Fabry therapy during the observational period.

“Our study in women with Fabry disease shows an increase of pain burden during pregnancies in those with pre-existing moderate pain,” the researchers concluded. Data also “clearly points to an increased risk for preeclampsia, for prematurity, and for neonates small for gestational age.”

The researchers said their data should be useful for clinicians and people with Fabry in considering disease-related healthcare issues during pregnancy.

“Although the sample size is small, the results of this study in a rare disease should be considered generalizable to the population of patients with Fabry disease living in regions with advanced healthcare,” the team wrote.