Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Pregnancy and Childbirth
Published in: BMC Pregnancy and Childbirth 1/2020

01-12-2020 | Acute Pancreatitis | Case report

Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report

Authors: Min-Huan Lin, Xiao-Hui Tian, Xiu-Lan Hao, Hui Fei, Jian-Lan Yin, Dan-Dan Yan, Tian Li

Published in: BMC Pregnancy and Childbirth | Issue 1/2020

Login to get access

Abstract

Background

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive lipid disorder often associated with recurrent episodes of pancreatitis. It is documented in most cases with FCS due to the mutations of key proteins in lipolysis, including LPL, APOC2, APOA5, LMF1 and GPIHBP1.

Case presentation

We report the successful management of a 35-year-old pregnant woman carrying a novel homozygous frameshift mutation c.48_49insGCGG (p.P17A fs*22) in the GPIHBP1 gene with previous severe episodes of acute pancreatitis triggered by pregnancy, resulting in adverse obstetrical outcomes. With careful monitoring, the patient underwent an uneventful pregnancy and delivered a baby with no anomalies.

Conclusions

The case report contributes to the understanding of GPIHBP1-deficient familial chylomicronemia syndrome (FCS) and highlights gestational management of FCS patient.
Literature
1.
Brahm AJ, Hegele RA. Chylomicronaemia--current diagnosis and future therapies. Nat Rev Endocrinol. 2015;11(6):352–62.CrossRef
2.
Falko JM. Familial chylomicronemia syndrome: a clinical guide for endocrinologists. Endocr Pract. 2018;24(8):756–63.CrossRef
3.
Miller M, Stone NJ, Ballantyne C, et al. Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association. Circulation. 2011;123(20):2292–333.CrossRef
4.
Johansen CT, Hegele RA. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol. 2011;22(4):247–53.CrossRef
5.
Beigneux AP, Miyashita K, Ploug M, et al. Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia. N Engl J Med. 2017;376(17):1647–58.CrossRef
6.
Ioka RX, Kang MJ, Kamiyama S, et al. Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1. J Biol Chem. 2003;278(9):7344–9.CrossRef
7.
Beigneux AP, Davies BS, Gin P, et al. Glycosylphosphatidylinositol-anchored high density lipoprotein–binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab. 2007;5(4):279–91.CrossRef
8.
Jellinger PS, Handelsman Y, Rosenblit PD, et al. American Association of Clinical Endocrinologists and American College of endocrinology guidelines for management of dyslipidemia and prevention of cardiovascular disease. Endocr Pract. 2017;23(4):479–97.CrossRef
9.
Leung TN, Pang MW, Daljit SS, et al. Fetal biometry in ethnic Chinese: biparietal diameter, head circumference, abdominal circumference and femur length. Ultrasound Obstet Gynecol. 2008;31(3):321–7.CrossRef
10.
Kilinc F, Senates E, Demircan F, et al. Are there differences in the management of acute pancreatitis cases due to severe hypertriglyceridemia in pregnant women? Med Sci Monit. 2018;24:5619–23.CrossRef
11.
González-Pérez A, López-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score. Condel Am J Hum Genet. 2011;88(4):440–9.CrossRef
12.
Ramasamy I. Recent advances in physiological lipoprotein metabolism. Clin Chem Lab Med. 2014;52(12):1695–727.CrossRef
13.
Young SG, Davies BS, Voss CV, et al. GPIHBP1, an endothelial cell transporter for lipoprotein lipase. J Lipid Res. 2011;52(11):1869–84.CrossRef
14.
Fong LG, Young SG, Beigneux AP, et al. GPIHBP1 and plasma triglyceride metabolism. Trends Endocrinol Metab. 2016;27(7):455–69.CrossRef
15.
Beigneux AP, Fong LG, Bensadoun A, et al. GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding. Circ Res. 2015;116(4):624–32.CrossRef
16.
Weinstock PH, Bisgaier CL, Aalto-Setälä K, et al. Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes. J Clin Invest. 1995;96(6):2555–68.CrossRef
17.
Herrera E. Lipid metabolism in pregnancy and its consequences in the fetus and newborn. Endocrine. 2002;19(1):43–55.CrossRef
18.
Basaran A. Pregnancy-induced hyperlipoproteinemia: review of the literature. Reprod Sci. 2009;16(5):431–7.CrossRef
19.
Havel RJ. Pathogenesis, differentiation and management of hypertriglyceridemia. Adv Intern Med. 1968;15:117–54.
20.
Berglund L, Brunzell JD, Goldberg AC, et al. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2012;97:2969–89.CrossRef
21.
Wong B, Ooi TC, Keely E. Severe gestational hypertriglyceridemia: a practical approach for clinicians. Obstet Med. 2015;8(4):158–67.CrossRef
22.
Wang X, Guan Q, Zhao J, et al. Association of maternal serum lipids at late gestation with the risk of neonatal macrosomia in women without diabetes mellitus. Lipids Health Dis. 2018;17(1):78.CrossRef
23.
Tsai EC, Brown JA, Veldee MY, et al. Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: a case report. BMC Pregnancy and Childbirth. 2004;4(1):27.CrossRef
24.
Goldberg AS, Hegele RA. Severe hypertriglyceridemia in pregnancy. J Clin Endocrinol and Metab. 2012;97(8):2589–96.CrossRef
25.
Whitten AE, Lorenz RP, Smith JM. Hyperlipidemia-associated pancreatitis in pregnancy managed with fenofibrate. Obstet Gynecol. 2012;117(2):517–9.CrossRef
26.
Yamamoto H, Onishi M, Miyamoto N, et al. Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD. J Atheroscler and Thromb. 2013;20(10):777–84.CrossRef
27.
Michalova R, Mankova A, Vnucak M, et al. Therapeutic plasma exchange in secondary prevention of acute pancreatitis in pregnant patient with familial hyperchylomicronemia. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019;163(1):90–4.CrossRef
28.
Djelmis J, Ivanisevic M, Kosi N. Plasmapheresis in pregnant patient with familial hypertriglyceridemia. Eur J Obstet Gynecol Reprod Biol. 2016;201:226–7.CrossRef
Metadata
Title
Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report
Authors
Min-Huan Lin
Xiao-Hui Tian
Xiu-Lan Hao
Hui Fei
Jian-Lan Yin
Dan-Dan Yan
Tian Li
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2020
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-020-02965-1

Other articles of this Issue 1/2020

BMC Pregnancy and Childbirth 1/2020 Go to the issue

Research article

Diagnostic accuracy of sFlt1/PlGF ratio as a marker for preeclampsia

Research article

Maternal HBsAg carriers and pregnancy outcomes: a retrospective cohort analysis of 85,190 pregnancies

Research article

Effect of pregnancy induced hypertension on adverse perinatal outcomes in Tigray regional state, Ethiopia: a prospective cohort study

Research article

Determinants and aetiologies of postpartum pyrexia; a retrospective analysis in a tertiary health facility in the Littoral Region of Cameroon

Research article

The characteristics of compassionate care during childbirth according to midwives: a qualitative descriptive inquiry

Research article

Nausea, vomiting and poor appetite during pregnancy and adverse birth outcomes in rural Nepal: an observational cohort study