Current Diagnosis and Management of Primary Chylomicronemia

Okazaki, Hiroaki; Gotoda, Takanari; Ogura, Mariko; Ishibashi, Shun; Inagaki, Kyoko; Daida, Hiroyuki; Hayashi, Toshio; Hori, Mika; Masuda, Daisuke; Matsuki, Kota; Yokoyama, Shinji; Harada‐Shiba, Mariko

doi:10.5551/jat.rv17054

Cited by 26 publications

(32 citation statements)

References 213 publications

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“…However, accumulating data shows that more than 30 genes are associated with HTG 1) . As the differentiation between monogenic and polygenic chylomicronemia can be complex, the practical term "primary chylomicronemia," which indicates TG exceeding 1,000 mg/dL after adequate management of secondary factors, is lately being used 23) . Recent studies have found that patients with severe HTG share common characteristic in the overrepresentation of common and rare pathogenic gene variants 24) .…”

Section: Discussionmentioning

confidence: 99%

“…In a recent guideline of therapeutic apheresis by the American Society for Apheresis, therapeutic plasma exchange/lipoprotein apheresis is recommended in hypertriglyceridemic pancreatitis as (1) category III and grade IC recommendation in severe case and (2) category III and grade 2C in the prevention of relapse 52) . Thus, decision-making on applying plasmapheresis should be individualized with careful consideration 23) .…”

Section: Discussionmentioning

confidence: 99%

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Recurrent Pancreatitis in a Pregnant Woman with Severe Hypertriglyceridemia Successfully Managed by Multiple Plasmapheresis

Choi

Kim

Jun

et al. 2022

JAT

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The official journal of the Japan Atherosclerosis Society and the Asian Pacific Society of Atherosclerosis and Vascular Diseases Case Report Hypertriglyceridemia (HTG) is a state of increased serum triglyceride (TG) affected by multigenetic and multifactorial causes. Serum TG concentration can be markedly elevated if exposed to precipitating factors, such as estrogen hormone and pregnancy. We report the case of a patient with severe HTG who suffered from recurrent pancreatitis during the second trimester of pregnancy conceived with in vitro fertilization-embryo transfer (IVF-ET) and was successfully controlled by multiple sessions of plasmapheresis.A 24-year-old pregnant woman was admitted because of a sudden onset of severe abdominal pain at 26 weeks of gestation conceived by IVF-ET. She has experienced recurrent pancreatitis despite low-fat diet and dyslipidemia medications allowed in pregnancy. At admission, serum amylase and lipase were elevated to 347 and 627 U/L, respectively, along with fasting TG to 4809 mg/dL. A clinical diagnosis of HTG-induced acute pancreatitis was made, and plasmapheresis was performed. After plasmapheresis, serum TG, amylase, and lipase levels decreased to 556 mg/dL, 60 U/L, and 69 U/L, respectively, along with subsequent pain relief. The patient underwent a total of nine sessions of plasmapheresis to retain serum TG lower than 1,000 mg/dL during pregnancy, with no further recurrence of acute pancreatitis. After delivery, the serum TG level was maintained below 500 mg/dL with a combination treatment of fenofibrate, statin, and ezetimibe.Although severe HTG is usually asymptomatic, if exposed to precipitating factors, it can cause acute pancreatitis, a fatal complication. Early application of plasmapheresis may be a useful option in HTG-induced acute pancreatitis intractable to medical treatment; however, its indications, risks, and benefits should be carefully evaluated. therapy, and drugs 4) .TG level elevation was related to estrogen level changes [5][6][7] . Although the mechanism is unknown, oral contraceptive or in vitro fertilization-embryo transfer (IVF-ET) is also known to increase TG level and cause acute pancreatitis [8][9][10][11] . Regarding pregnancy, studies have investigated clinical courses related to HTG and HTG-induced acute pancreatitis [12][13][14] . In consideration of IVF-ET, currently reported cases are focused on HTG-induced acute pancreatitis before Copyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Recurrent Pancreatitis in a Pregnant Woman with Severe Hypertriglyceridemia Successfully Managed by Multiple Plasmapheresis

Choi

Kim

Jun

et al. 2022

JAT

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“…Nevertheless, other factors, such as triglycerides or triglyceride-rich lipoproteins (TRLs), contribute to the CVD risk with low-grade inflammation, as a part of atherosclerosis ( Nordestgaard, 2016 ). The goal of the treatment is to reduce plasma TG levels to less than 500–1,000 mg/dl to prevent acute pancreatitis ( Okazaki et al, 2021 ). To prevent abdominal pain and acute pancreatitis, patients should be on a low-fat diet of total dietary fat intake of <10–15% of daily calories (<15–20 g per day) and treated with common lipid-lowering drugs (fibrates, omega-3 fatty acids, statins) ( Esan and Wierzbicki, 2020 ; Navarro Hermoso and Valdivielso, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

et al. 2022

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Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis of rare dyslipidaemias are urgently required.Methods: Genomic DNA was isolated from blood samples of a Pakistani paediatric patient with hypertriglyceridemia, and from his parents and siblings. Next-generation sequencing (NGS) was performed, and an expanded dyslipidaemia panel was employed for genetic analysis.Results: The NGS revealed the presence of a homozygous missense pathogenic variant c.230G>A (NM_178172.6) in exon 3 of the GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) gene resulting in amino acid change p.Cys77Tyr (NP_835466.2). The patient was 5.5 years old at the time of genetic diagnosis. The maximal total cholesterol and triglyceride levels were measured at the age of 10 months (850.7 mg/dl, 22.0 mmol/L and 5,137 mg/dl, 58.0 mmol/L, respectively). The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly. Both parents and sister were heterozygous for the familial variant in the GPIHBP1 gene. Moreover, in the systematic review, we present 62 patients with pathogenic variants in the GPIHBP1 gene and clinical findings, associated with hyperlipoproteinemia.Conclusion: In a child with severe hypertriglyceridemia, we identified a pathogenic variant in the GPIHBP1 gene causing hyperlipoproteinemia (type 1D). In cases of severe elevations of plasma cholesterol and/or triglycerides genetic testing for rare dyslipidaemias should be performed as soon as possible for optimal therapy and patient management.

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“…Extreme hypertriglyceridaemia is a medical emergency 138 139. The risk of pancreatitis increases up to 200-fold at TG >20 mmol/L 28.…”

Section: Treatment Of Hypertriglyceridaemiamentioning

confidence: 99%

Hypertriglyceridaemia: an update

et al. 2022

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Triglycerides (TGs) form part of the standard lipid profile. Elevations in TGs are associated with increased cardiovascular disease risk through triglyceride-rich lipoprotein particles found as part of non-HDL cholesterol. Many elevations of TGs are secondary to other causes, but primary hypertriglyceridaemia syndromes need to be identified. The genetic causes of hypertriglyceridaemia range from familial combined hyperlipidaemia through the autosomal recessive remnant hyperlipidaemia (related to apolipoprotein E variants) and familial chylomicronaemia syndromes. Patients with primary hypertriglyceridaemia >10 mmol/L require characterisation and specific intervention. Simple lipid profiles do not provide adequate information for detailed diagnosis and additional assays such as apolipoprotein (apo)B100, apoE genotype and next-generation sequencing may be useful. Management of raised TGs includes optimising diet, reducing exacerbating factors as well as lipid-lowering medications such as statins, fibrates, niacin and omega-3 fatty acids. Novel medications for orphan disease indications such as familial chylomicronaemia syndrome include volanesorsen, evinacumab and other antisense therapeutics. Extreme hypertriglyceridaemia syndromes, especially chylomicronaemia syndromes, which can be exposed by pregnancy or other factors are a medical emergency and require admission and specialist management sometimes including plasma exchange.

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Current Diagnosis and Management of Primary Chylomicronemia

Cited by 26 publications

References 213 publications

Recurrent Pancreatitis in a Pregnant Woman with Severe Hypertriglyceridemia Successfully Managed by Multiple Plasmapheresis

Recurrent Pancreatitis in a Pregnant Woman with Severe Hypertriglyceridemia Successfully Managed by Multiple Plasmapheresis

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

Hypertriglyceridaemia: an update

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