Abstract
Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.
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References
Abildgaard U, Heimdal K (2013) Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review. Eur J Obstet Gynecol Reprod Biol 166:117–123
ACMG Work Group on Management of Pompe Disease (2006) Pompe disease diagnosis and management guideline. Genet Med 8:267–288
Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M (2013) The role of respiratory management of Pompe disease. Respir Med 107:1124–1132
Bjornsdottir S, Cnattingius S, Brandt L et al (2010) Addison’s disease in women is a risk factor for an adverse pregnancy outcome. J Clin Endocrinol Metab 95:5249–5257
Cilliers HJ, Yeo ST, Salmon NP (2008) Anaesthetic management of an obstetric patient with Pompe disease. Int J Obstet Anesth 17:170–173
de Vries JM, Brugma JD, Ozkan L et al (2011) First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab 104:552–555
Donnelly JC, O’Connell MP, Keane DP (2003) Addison’s disease, with successful pregnancy outcome. J Obstet Gynaecol 23:199
Fux Otta C, Szafryk de Mereshian P, Iraci GS, Ojeda de Pruneda MR (2008) Pregnancies associated with primary adrenal insufficiency. Fertil Steril 90(1199):e1117–e1120
Halperin Rabinovich I, Obiols Alfonso G, Soto Moreno A et al (2008) Clinical Practice Guideline for Hypothalamic-Pituitary Disturbances in Pregnancy and the Postpartum Period. Endocrinol Nutr 55:29–43
Heidemann B (2003) Changes in maternal physiology during pregnancy. Br J Anaesth 3
Karabul N, Berndt J, Kornblum C et al (2014) Pregnancy and delivery in women with Pompe disease. Mol Genet Metab 112:148–153
Kim WS, Cho AR, Hong JM et al (2010) Combined general and epidural anesthesia for major abdominal surgery in a patient with Pompe disease. J Anesth 24:768–773
Kuczkowski KM, Reisner LS, Benumof JL (2003) Airway problems and new solutions for the obstetric patient. J Clin Anesth 15:552–563
Lehberger J, Roth R, Weingartner K, Heesen M (2012) Pompe disease: anesthesiological special features. Anaesthesist 61:229–233
Lindsay JR, Nieman LK (2005) The hypothalamic-pituitary-adrenal axis in pregnancy: challenges in disease detection and treatment. Endocr Rev 26:775–799
Schuller A, Kornblum C, Deschauer M et al (2013) Diagnosis and therapy of late onset Pompe disease. Nervenarzt 84:1467–1472
Teener JW (2012) Late-onset Pompe’s disease. Semin Neurol 32:506–511
überarbeitete Empfehlungen der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin und des Berufsverbandes Deutscher Anästhesisten in Zusammen arbeit mit der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe (2004) Durchführung von Analgesie- und Anästhesieverfahren in der Geburtshilfe. Anästh Intensivmed 45:151–153
Zagnoli F, Leblanc A, Blanchard C (2013) Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency. Neuromuscul Disord 23:180–181
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Communicated by: Stephanie Gruenewald, MD
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Synopsis
During pregnancy, symptoms of Pompe may worsen, due to the burden of the pregnancy. However, with interdisciplinary cooperation, pregnancy and parturition pose no risk for neither the mother nor the child.
Compliance with Ethical Guidelines
All procedures were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000(5). Informed consent was obtained from the patient for the publication of her data. The institutional ethic committee consented to the publication of the data (EA2/089/15).
Conflict of Interest
Ursula Plöckinger was the recipient of an unrestricted grant by Genzyme, Germany, as well as speaker honorarium from Genzyme, Germany, and BioMarin, Germany, and a research grant from Pfizer, Germany. Nikolaus Tiling has received a speaker honorarium from Shire, Germany, and Genzyme, Germany. Lenka Bosanska, Bettina Temmesfeld-Wollbrück, Kerstin Irlbacher, Viktor Mezger and Gabriele Gossing declare that they have no conflict of interest.
Authorship Contribution
U. Plöckinger wrote the manuscript, Nikolaus Tiling and Lenka Bosanska cared for the patient and provided the data, Bettina Temmesfeld-Wollbrück performed the lung function tests and wrote the part of the manuscript dealing with lung function, Kerstin Irlbacher performed neurologic examinations and wrote the part of the manuscript dealing with neurological functions, Viktor Mezger wrote the part of the manuscript dealing with anaesthesia and Gabriele Gossing cared for the patient during pregnancy and parturition and wrote the part of the manuscript dealing with parturition.
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Plöckinger, U. et al. (2015). Multiple, Successful Pregnancies in Pompe Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 28. JIMD Reports, vol 28. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_518
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DOI: https://doi.org/10.1007/8904_2015_518
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