Fabry disease complicating pregnancy

Parent, Emily; Wax, Joseph R.; Smith, W. S.; Blaszyk, Hagen; Pinette, Michael G.; Cartin, Angelina; Blackstone, Jacquelyn

doi:10.3109/14767050903580391

Cited by 10 publications

(8 citation statements)

References 8 publications

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“…However, this finding deserves further study. So far, only case-studies on uneventful pregnancies have been reported (Bouwman et al 2010; Germain et al 2010; Kalkum et al 2009; Parent et al 2010; Politei 2010; Wendt et al 2005). The prevalence of hypertension during pregnancy and pre-eclampsia was slightly increased in Fabry females, although not to a statistically significant level in this relatively small group.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Bouwman

Rombach

Schenk³

et al. 2012

J of Inher Metab Disea

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BackgroundFabry disease (FD) is an X-linked lysosomal storage disorder, caused by a deficiency of α-galactosidase A. Several studies demonstrated that heterozygotes have symptoms such as acroparesthesia, abdominal pain and chronic fatigue. However, as these symptoms are aspecific and relatively common in the general population, it is important to compare the prevalence of these symptoms with an appropriate control group. The aim of this study was to explore the prevalence of signs and symptoms in FD females in comparison to a control group.MethodsFD females and age-matched controls were approached to complete a questionnaire. This questionnaire was developed by the Dutch Fabry patient organisation (Fabry Support en Informatie Groep Nederland, FSIGN) with input from Fabry expert-physicians from the AMC. We compared the prevalence symptoms using Pearson’s chi-square test. Bonferroni correction was used to correct for multiple comparisons.ResultsA total of 63 heterozygotes and 52 controls completed the questionnaire. Many symptoms were also common in controls. Yet, fatigue, palpitations, pains in hands and feet, joint pain, dizziness, loss of libido and proteinuria during pregnancy were more common in Fabry females (all p < 0.001).ConclusionIn addition to acroparesthesia - fatigue, palpitations, dizziness, proteinuria during pregnancy, libido loss and joint pain are more prevalent in FD females as compared to a control group. Although, these symptoms are present in a significant proportion of normal controls they deserve further attention by treating physicians to better understand their significance, treatment and relationship with FD.

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Section: Discussionmentioning

confidence: 99%

Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Bouwman

Rombach

Schenk³

et al. 2012

J of Inher Metab Disea

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“…Accordingly, the decision to start or continue therapy must be made on an individual basis in cooperation with a team experienced with treatment of FD (Deegan et al 2006;Vedder et al 2006;Parent et al 2010). This is further supported by established recommendations from the National Society of Genetic Counselors which recommends that women with FD be placed on ERT as soon as symptoms are first experienced and use discretion on whether to continue during pregnancy (Laney et al 2013).…”

Section: Discussionmentioning

confidence: 99%

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Holmes

Laney

2014

JIMD Reports

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Fabry disease (FD) is a lysosomal storage disorder resulting from a deficiency of lysosomal enzyme a-galactosidase A (a-gal A). Reduced or missing a-gal A enzyme results in the storage of globotriaosylceramide (GL3) and related glycosphingolipids in the cellular lysosomes throughout the body. The majority of GL3 buildup occurs in the body's vasculature resulting in narrowed blood vessels and an increased risk for strokes, transient ischemic attacks, and deep vein thrombosis. Theoretical concerns have been raised about increased pregnancy complications in women affected by FD as glycosphingolipid storage has been found in both maternal-and fetal-derived placental tissues. This retrospective study was conducted to better understand risks for women with FD during pregnancy. Survey questions included queries about prenatal medications, teratogenic exposures, prenatal testing, common pregnancy complications, Fabry symptoms during pregnancy, obstetrical history, and immediate neonatal history. In total, 41 affected women completed the survey. Results indicate several Fabry-related symptoms and features may worsen during pregnancy, including gastrointestinal symptoms, acroparesthesias, proteinuria, headaches, and postpartum depression. Although no life-threatening complications were reported, a statistically significant increased frequency of hypertension was observed when comparing data from this study to the general population (p < 0.05) and previous publications (p < 0.001). Limitations include sample size and recall bias. Though this survey sampling of women was small and required women to recall their past pregnancy experiences, the findings suggest that when pregnant, women with FD should be aware of potential worsening of FD symptoms and may benefit from consulting with a maternal-fetal medicine specialist.

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“…At enrollment, 24-h urine protein was 83 mg/24 h. In accordance with the study protocol, the patient agreed to use hormonal is unknown; however, the patient smoked during her pregnancy, which is known to be associated with low birth weight [15,16]. To our knowledge, there is no report of an association between low birth weight and Fabry disease and normal birth weight has been reported for Fabry-complicated pregnancies [17].…”

Section: Migalastat Treatment and Pregnancymentioning

confidence: 99%

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report

Haninger-Vacariu

El-Hadi

Pauler

et al. 2019

Case Reports in Obstetrics and Gynecology

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Our patient was a 37-year-old woman with Fabry disease (GLA p.R112H) with a medical history of recurrent headache, nausea, vomiting, vertigo, and tobacco use (20 cigarettes/day). Fabry disease was diagnosed in 2005 when she experienced proteinuria, preeclampsia, and hypertension (201/130 mm Hg) during pregnancy (delivered 50 cm, 3.4 kg healthy boy; GLA wild type [WT]). Enzyme replacement therapy was initiated in 2009. The patient enrolled in the phase 3 ATTRACT trial (ClinicalTrials.gov; NCT01218659) and started migalastat in May 2012 while taking hormonal contraceptives. Two years after initiating migalastat, the patient had proteinuria (2166 mg/24 h) without hypertension (131/68 mm Hg), which persisted (788 mg/24 h a month later). Kidney biopsy results were consistent with existing Fabry disease. A serum pregnancy test and ultrasound confirmed pregnancy (18 weeks’ gestation). Migalastat and hormonal contraceptives were stopped; the patient continued to smoke. Fetal MRI was normal at ~29 weeks’ gestation. In October 2014, at 37+ weeks’ gestation, the patient delivered a 45-cm, 2.29-kg healthy girl (GLA WT). Excepting low birth weight, which may be related to the patient’s smoking, pregnancy outcome was normal despite exposure to migalastat for 18 weeks. Migalastat therapy during pregnancy is not advised.

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Fabry disease complicating pregnancy

Abstract: A symptomatic Fabry carrier may experience an otherwise uncomplicated pregnancy in the absence of vital organ involvement.

Cited by 10 publications

References 8 publications

Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Prevalence of symptoms in female Fabry disease patients: a case‐control survey

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report

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