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. 2020 Sep 11;10(9):194.
doi: 10.3390/life10090194.

Pregnancy Outcomes in Late Onset Pompe Disease

Ozlem Goker-Alpan  1 , Vellore G Kasturi  2 , Maninder K Sohi  1 , Renuka P Limgala  1 , Stephanie L Austin  2 , Tabitha Jennelle  1 , Maryam Banikazemi  3 , Priya S Kishnani  2
Affiliations

Pregnancy Outcomes in Late Onset Pompe Disease

Ozlem Goker-Alpan et al. Life (Basel). .

Abstract

There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2-0.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes.

Keywords: LOPD; enzyme replacement therapy; glycogen storage disease type II; lysosomal disorders; pompe disease; pregnancy.

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Conflict of interest statement

O.G.-A., P.S.K., and M.B. are consultants, on speaker bureau, received honoraria, and/or travel support from Sanofi Genzyme; however, this had no influence on the designing, plan, and outcome of this manuscript. No other authors have any conflicts of interest to declare relevant to this present study. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Pregnancy outcomes in LOPD: The frequency of pregnancy related events in 25 female patients with LOPD in comparison to the national data. This includes: (A) pregnancy outcomes; (B) mode of delivery; (C) pre-term labor; (D) anesthesia complications during delivery; along with (E) examining frequency of congenital defects in the study cohort; and (F) examining treatment decisions in pregnant patient with LOPD.
See this image and copyright information in PMC

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