Skip to main content
Top
Published in: Orphanet Journal of Rare Diseases 1/2024

Open Access 01-12-2024 | Fabry Disease | Research

Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study

Authors: Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann, Alice Schmidt

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

Login to get access

Abstract

Background

Pregnancy and delivery outcomes in women with Fabry disease are not well described.

Methods

Retrospective cohort-study of women with Fabry disease in Austria using a specific questionnaire and the Austrian Mother–Child Health Passport.

Results

Out of a total of 44 enrolled women (median age at study entry 44 years, p25: 30, p75: 51), 86.4% showed signs and symptoms of Fabry disease with an increase in pain burden during pregnancy, primarily in women with moderate pain before pregnancy. Thirty-two of 44 women with Fabry disease reported a total of 70 pregnancies (median age at first pregnancy 24 years, p25: 21, p75: 31), 61 (87.1%) of which resulted in 64 live births including 3 sets of twins, six miscarriages (8.6%) in five women, and three induced abortions (4.3%) in two women. Risk factors for poor maternal and foetal outcomes during pregnancy, overrepresented in our cohort as compared to the general population, were hypertension (n = 10, 16.4%), proteinuria (n = 17, 27.9%) and smoking (n = 24, 39.3%). Preeclampsia was reported in 7 pregnancies (11.5%). Fifty-one (79.7%) children were born at term and 13 (20.3%) were preterm (including one neonatal death), with a median gestational age of 39 weeks (p25: 38, p75: 40) and delivery by C-section in 15 pregnancies (24.6%). Thirteen (20.3%) children presented with low birth weight and 18 (28.1%) were small for their gestational age. In comparison to global and national data-sets, preeclampsia, prematurity, low birth weight, being small for their gestational age as well as inpatient stay were significantly more common in patients with Fabry disease.

Conclusions

Our cohort-study in women with Fabry disease shows an increase of pain burden during pregnancies and clearly points to an increased risk for preeclampsia, prematurity, and neonates small for gestational age. With a substantial number of high-risk pregnancies, neonatal outcomes are somewhat worse in Fabry disease than in the general public. Thus, we provide valuable data enabling informed decision-making in pregnancy counselling for Fabry disease.
Appendix
Available only for authorised users
Literature
2.
go back to reference Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–42.CrossRefPubMed Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–42.CrossRefPubMed
3.
go back to reference Bouwman MG, Rombach SM, Schenk E, et al. Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis. 2012;35(5):891–8.CrossRefPubMedPubMedCentral Bouwman MG, Rombach SM, Schenk E, et al. Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis. 2012;35(5):891–8.CrossRefPubMedPubMedCentral
5.
go back to reference Leodolter I. Short report: the mother-child health passport: Austria’s successful weapon against infant mortality. Prev Med. 1978;7(4):561–3.CrossRefPubMed Leodolter I. Short report: the mother-child health passport: Austria’s successful weapon against infant mortality. Prev Med. 1978;7(4):561–3.CrossRefPubMed
6.
go back to reference Voigt M, Fusch C, Olbertz D, et al. Analysis of the neonatal collective in the Federal Republic of Germany 12th report. Presentation of detailed percentiles for the body measurement of newborns. Geburtsh Frauenheilk. 2006;66(10):956–70.CrossRef Voigt M, Fusch C, Olbertz D, et al. Analysis of the neonatal collective in the Federal Republic of Germany 12th report. Presentation of detailed percentiles for the body measurement of newborns. Geburtsh Frauenheilk. 2006;66(10):956–70.CrossRef
8.
go back to reference Germain DP, Levade T, Hachulla E, et al. Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease. Clin Genet. 2022;101(4):390–402.CrossRefPubMed Germain DP, Levade T, Hachulla E, et al. Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease. Clin Genet. 2022;101(4):390–402.CrossRefPubMed
9.
go back to reference Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631–41.CrossRefPubMed Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631–41.CrossRefPubMed
10.
go back to reference Abalos E, Cuesta C, Grosso AL, Chou D, Say L. Global and regional estimates of preeclampsia and eclampsia: a systematic review. Eur J Obstet Gynecol Reprod Biol. 2013;170(1):1–7.CrossRefPubMed Abalos E, Cuesta C, Grosso AL, Chou D, Say L. Global and regional estimates of preeclampsia and eclampsia: a systematic review. Eur J Obstet Gynecol Reprod Biol. 2013;170(1):1–7.CrossRefPubMed
11.
go back to reference Sanchez R, Ripoll-Vera T, Lopez-Mendoza M, et al. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet J Rare Dis. 2023;18(1):8.CrossRefPubMedPubMedCentral Sanchez R, Ripoll-Vera T, Lopez-Mendoza M, et al. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet J Rare Dis. 2023;18(1):8.CrossRefPubMedPubMedCentral
12.
go back to reference Haninger-Vacariu N, El-Hadi S, Pauler U, et al. Pregnancy outcome after exposure to Migalastat for Fabry disease: a clinical report. Case Rep Obstet Gynecol. 2019;2019:1030259.PubMedPubMedCentral Haninger-Vacariu N, El-Hadi S, Pauler U, et al. Pregnancy outcome after exposure to Migalastat for Fabry disease: a clinical report. Case Rep Obstet Gynecol. 2019;2019:1030259.PubMedPubMedCentral
13.
14.
go back to reference Magnus MC, Wilcox AJ, Morken NH, Weinberg CR, Haberg SE. Role of maternal age and pregnancy history in risk of miscarriage: prospective register based study. BMJ. 2019;364:l869.CrossRefPubMedPubMedCentral Magnus MC, Wilcox AJ, Morken NH, Weinberg CR, Haberg SE. Role of maternal age and pregnancy history in risk of miscarriage: prospective register based study. BMJ. 2019;364:l869.CrossRefPubMedPubMedCentral
15.
go back to reference Ohuma EO, Moller AB, Bradley E, et al. National, regional, and global estimates of preterm birth in 2020, with trends from 2010: a systematic analysis. Lancet. 2023;402(10409):1261–71.CrossRefPubMed Ohuma EO, Moller AB, Bradley E, et al. National, regional, and global estimates of preterm birth in 2020, with trends from 2010: a systematic analysis. Lancet. 2023;402(10409):1261–71.CrossRefPubMed
16.
go back to reference Haninger-Vacariu N, Gleiss A, Gaggl M, et al. Pregnancy in complement-mediated thrombotic microangiopathy: maternal and neonatal outcomes. Kidney Med. 2023;5(7):100669.CrossRefPubMedPubMedCentral Haninger-Vacariu N, Gleiss A, Gaggl M, et al. Pregnancy in complement-mediated thrombotic microangiopathy: maternal and neonatal outcomes. Kidney Med. 2023;5(7):100669.CrossRefPubMedPubMedCentral
17.
go back to reference Thurberg BL, Politei JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol. 2012;43(4):610–4.CrossRefPubMed Thurberg BL, Politei JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol. 2012;43(4):610–4.CrossRefPubMed
Metadata
Title
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Authors
Natalja Haninger-Vacariu
Kyra Anastopoulos
Christof Aigner
Raute Sunder-Plassmann
Constantin Gatterer
Markus Ponleitner
Gere Sunder-Plassmann
Alice Schmidt
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-024-03180-3

Other articles of this Issue 1/2024

Orphanet Journal of Rare Diseases 1/2024 Go to the issue