Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease

Kalkum, Gisela; Macchiella, D; Reinke, Jörg; Kölbl, H.; Beck, Michael

doi:10.1016/j.ejogrb.2009.01.007

Cited by 22 publications

(14 citation statements)

References 4 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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“…Successful pregnancies have been described with the use of these and other specialist medications (including enzyme replacement therapies for the lysosomal storage disorders, Fabry disease (#301500) and acid maltase deficiency (#232300)). [3][4][5][6][7][8] Many manufacturers will keep a registry of pregnancies occurring on their product and should be contacted directly for advice if no specific information is available in the literature.…”

Section: The Pre-conception Periodmentioning

confidence: 99%

Pregnancy in women with inherited metabolic disease

Murphy

2015

Obstet Med

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An increasing number of women with rare inherited disorders of metabolism are becoming pregnant. Whilst, in general, outcomes for women and their children are good, there are issues that need to be considered. Due to the rarity of many conditions, there is limited specific guidance available on best management. Prepregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health and long-term health of children should be offered. With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, and the risk of metabolic decompensation in other disorders of intoxication or energy metabolism significantly reduced. Newer therapies, such as enzyme replacement therapy, appear to be safe in pregnancy, but specific advice should be sought. Multidisciplinary management, and close liaison between obstetricians and other specialists is required for women in whom there is cardiac, renal, respiratory, joint or other organ involvement.

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“…Preclinical animal studies do not indicate any direct or indirect harmful effects on fertility and embryonic development with the use of Replagal. Studies are limited, but to date no harmful effects have been noted in pregnancy for either the mother or the newborn child [86,87]. Studies have not been performed to assess the amount of Replagal capable of crossing the placental or into human milk, but the amounts are predicted to be low based on biochemical properties of the enzyme.…”

Section: Pain Disease Severity Quality Of Life and Other Outcome Measmentioning

confidence: 99%