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Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach

Introduction: Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disease where functional loss of lipoprotein lipase results in severe hypertriglyceridemia. Patients often experience recurrent acute pancreatitis, a life-threatening disease. Serum triglycerides (TGs) are physiologi...

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Autores principales: Leskovar, Dunja, Šabić, Marina, Perica, Dražen, Šućur, Nediljko, Hauptman, Ana Godan, Merćep, Iveta, Borovečki, Fran, Jelaković, Bojan, Reiner, Željko, Pećin, Ivan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090153/
http://dx.doi.org/10.1210/jendso/bvab048.635
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author Leskovar, Dunja
Šabić, Marina
Perica, Dražen
Šućur, Nediljko
Hauptman, Ana Godan
Merćep, Iveta
Borovečki, Fran
Jelaković, Bojan
Reiner, Željko
Pećin, Ivan
author_facet Leskovar, Dunja
Šabić, Marina
Perica, Dražen
Šućur, Nediljko
Hauptman, Ana Godan
Merćep, Iveta
Borovečki, Fran
Jelaković, Bojan
Reiner, Željko
Pećin, Ivan
author_sort Leskovar, Dunja
collection PubMed
description Introduction: Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disease where functional loss of lipoprotein lipase results in severe hypertriglyceridemia. Patients often experience recurrent acute pancreatitis, a life-threatening disease. Serum triglycerides (TGs) are physiologically elevated several folds during pregnancy, which especially endanger patients with FCS to develop hypertriglyceridemic pancreatitis (HP) and complications like miscarriage. Despite the development of new drugs for FCS, their safety in pregnancy has not yet been confirmed and their treatment represents a big challenge. Clinical Case: A 30-year women was hospitalized for planned reevaluation while 22 weeks pregnant. She was diagnosed with FCS at the age of one month with failure to thrive, jaundice and lipemic blood serum (homozygous for the LPL gene variation C.1019-2A>T). During childhood she was treated with low-fat diet with average TG levels 10–15 mmol/l (n<1,7 mmol/l). In the past five years, she was hospitalized for HP five times due to loss of compliance to diet (serum TGs > 30 mmol/l). The last episode of HP was provoked by pregnancy and resulted in miscarriage. At the admission, the patient was asymptomatic, with BMI:18,5 kg/m(2), TGs: 32,2 mmol/l (n<1,7 nmol/l), lipase: 21 U/L (n<60 U/L). Gynecology status and child growth parameters were normal. Due to inability to achieve lower TG levels plasmapheresis was started two times per week. The overall mean of pre plasmapheresis values of TGs were 21,68 nmol/l (ranging from 15,9 to 26,3 nmol/l) and post plasmapheresis were 7,15 mmol/L (ranging from 4,9 to 9,9 mmol/l). Due to the frequent need for plasmapheresis and high risk pregnancy, the patient was transferred to the Gynecology department. The patient had no adverse reactions and fetal monitoring was performed before, during and after procedure with no abnormalities registered. Plasmapheresis was performed using Spectra OPTIA via peripheral veins with 5% albumin replacement, proceeded by 250-500ml of 0.9% saline infusion. At 40(th) gestational week Cesarean section was performed and a healthy baby boy (weight: 3540 g, lenght: 49 cm) was born with Apgar score 10/10. We followed baby boy the first five years of the childhood. So far the patient has not experienced HP and the baby boy has normal levels of TGs. Conclusion: Our case showed a succesfull pregnancy outcome in female patient with FCS achieved by multidisciplinary approach including plasmapheresis. For the first time therapeutic plasmaferesis was used in order to prevent pancreatitis and potential complications for both mother and child.
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spelling pubmed-80901532021-05-06 Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach Leskovar, Dunja Šabić, Marina Perica, Dražen Šućur, Nediljko Hauptman, Ana Godan Merćep, Iveta Borovečki, Fran Jelaković, Bojan Reiner, Željko Pećin, Ivan J Endocr Soc Cardiovascular Endocrinology Introduction: Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disease where functional loss of lipoprotein lipase results in severe hypertriglyceridemia. Patients often experience recurrent acute pancreatitis, a life-threatening disease. Serum triglycerides (TGs) are physiologically elevated several folds during pregnancy, which especially endanger patients with FCS to develop hypertriglyceridemic pancreatitis (HP) and complications like miscarriage. Despite the development of new drugs for FCS, their safety in pregnancy has not yet been confirmed and their treatment represents a big challenge. Clinical Case: A 30-year women was hospitalized for planned reevaluation while 22 weeks pregnant. She was diagnosed with FCS at the age of one month with failure to thrive, jaundice and lipemic blood serum (homozygous for the LPL gene variation C.1019-2A>T). During childhood she was treated with low-fat diet with average TG levels 10–15 mmol/l (n<1,7 mmol/l). In the past five years, she was hospitalized for HP five times due to loss of compliance to diet (serum TGs > 30 mmol/l). The last episode of HP was provoked by pregnancy and resulted in miscarriage. At the admission, the patient was asymptomatic, with BMI:18,5 kg/m(2), TGs: 32,2 mmol/l (n<1,7 nmol/l), lipase: 21 U/L (n<60 U/L). Gynecology status and child growth parameters were normal. Due to inability to achieve lower TG levels plasmapheresis was started two times per week. The overall mean of pre plasmapheresis values of TGs were 21,68 nmol/l (ranging from 15,9 to 26,3 nmol/l) and post plasmapheresis were 7,15 mmol/L (ranging from 4,9 to 9,9 mmol/l). Due to the frequent need for plasmapheresis and high risk pregnancy, the patient was transferred to the Gynecology department. The patient had no adverse reactions and fetal monitoring was performed before, during and after procedure with no abnormalities registered. Plasmapheresis was performed using Spectra OPTIA via peripheral veins with 5% albumin replacement, proceeded by 250-500ml of 0.9% saline infusion. At 40(th) gestational week Cesarean section was performed and a healthy baby boy (weight: 3540 g, lenght: 49 cm) was born with Apgar score 10/10. We followed baby boy the first five years of the childhood. So far the patient has not experienced HP and the baby boy has normal levels of TGs. Conclusion: Our case showed a succesfull pregnancy outcome in female patient with FCS achieved by multidisciplinary approach including plasmapheresis. For the first time therapeutic plasmaferesis was used in order to prevent pancreatitis and potential complications for both mother and child. Oxford University Press 2021-05-03 /pmc/articles/PMC8090153/ http://dx.doi.org/10.1210/jendso/bvab048.635 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Cardiovascular Endocrinology
Leskovar, Dunja
Šabić, Marina
Perica, Dražen
Šućur, Nediljko
Hauptman, Ana Godan
Merćep, Iveta
Borovečki, Fran
Jelaković, Bojan
Reiner, Željko
Pećin, Ivan
Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title_full Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title_fullStr Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title_full_unstemmed Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title_short Pregnancy in Familial Chylomicronemia Syndrome: Plasmapheresis as Therapeutic Approach
title_sort pregnancy in familial chylomicronemia syndrome: plasmapheresis as therapeutic approach
topic Cardiovascular Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090153/
http://dx.doi.org/10.1210/jendso/bvab048.635
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