Chylomicronemia through a burr hole: A case report

Loh, Wann Jia; Bakthavachalam, Ramesh; Tavintharan, Subramaniam; Pek, Sharon Li Ting; Chua, Fionn; Lee, Lester; Watts, Gerald F.

doi:10.3389/fcvm.2022.1020397

Cited by 2 publications

(1 citation statement)

References 25 publications

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“…One of the patients also had a variant in the GPIHBP1 gene (c.523G > C, p. Gly175Arg), also of uncertain clinical significance, associated with hyperlipoproteinemia type 1D (MIM # 615947) plus the variant in APOA5 already described in the carrier state for both genes, without a typical phenotype for familial chylomicronemia. Other variants in the same genes have been seen in other studies, such as in Singapore, where Loh et al described a case report of a patient with a homozygous variant in APOA5 and a heterozygous common variant in GPIHBP1 who presented with subarachnoid hemorrhage with lactescent appearance [ 38 ]. In addition, in Norway, Retterstøl et al diagnosed 2 female patients with primary HTG and a history of recurrent AP who had a homozygous mutation in exons 3 and 4 of the GPIHBP1 gene, and Lin et al found a homozygous mutation in the same gene in a patient with a history of recurrent AP without mutations in the APOA5 gene [ 18 , 36 ].…”

Section: Discussionmentioning

confidence: 99%

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

Rodriguez¹,

Estrada²,

Quintero³

et al. 2023

Lipids Health Dis

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Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is a polygenic disorder and the most frequent cause of chylomicronemia, which results from the presence of multiple genetic variants related to chylomicron metabolism, in addition to secondary factors. Indeed, the genetic determinants that predispose to MCS are the presence of a heterozygous rare variant or an accumulation of several SNPs (oligo/polygenic). However, their clinical, paraclinical, and molecular features are not well established in our country. The objective of this study was to describe the development and results of a screening program for severe hypertriglyceridemia in Colombia. Methods A cross-sectional study was performed. All patients aged >18 years with triglyceride levels ≥500 mg/dL from 2010 to 2020 were included. The program was developed in three stages: 1. Review of electronic records and identification of suspected cases based on laboratory findings (triglyceride levels ≥500 mg/dL); 2. Identification of suspected cases based on laboratory findings that also allowed us to exclude secondary factors; 3. Patients with FCS scores <8 were excluded. The remaining patients underwent molecular analysis. Results In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard deviation [SD] 335.9 mg/dL). After applying the FCS score, 2.4% (n = 18) of patients met the probable case definition and underwent a molecular test. Additionally, 7 patients had unique variants in the APOA5 gene (c.694 T > C; p. Ser232Pro) or in the GPIHBP1 gene (c.523G > C; p. Gly175Arg), for an apparent prevalence of familial chylomicronemia in the consulting population of 0.41 per 1.000 patients with severe HTG measurement. No previously reported pathogenic variants were detected. Conclusion This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 gene, we diagnosed only one patient with FCS. We believe that more programs of these characteristics should be developed in our region, given the importance of early detection of this metabolic disorder.

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Section: Discussionmentioning

confidence: 99%

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

Rodriguez¹,

Estrada²,

Quintero³

et al. 2023

Lipids Health Dis

View full text Add to dashboard Cite

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Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report

Makhmudova,

Schulze,

Lorkowski

et al. 2024

J Med Case Reports

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Background Homozygous mutations in the APOA5 gene constitute a rare cause of monogenic hypertriglyceridemia, or familial chylomicronemia syndrome (FCS). We searched PubMed and identified 16 cases of homozygous mutations in the APOA5 gene. Severe hypertriglyceridemia related to monogenic mutations in triglyceride-regulating genes can cause recurrent acute pancreatitis. Standard therapeutic approaches for managing this condition typically include dietary interventions, fibrates, and omega-3-fatty acids. A novel therapeutic approach, antisense oligonucleotide volanesorsen is approved for use in patients with FCS. Case presentation We report a case of a 25-years old Afghani male presenting with acute pancreatitis due to severe hypertriglyceridemia up to 29.8 mmol/L caused by homozygosity in APOA5 (c.427delC, p.Arg143Alafs*57). A low-fat diet enriched with medium-chain TG (MCT) oil and fibrate therapy did not prevent recurrent relapses, and volanesorsen was initiated. Volanesorsen resulted in almost normalized triglyceride levels. No further relapses of acute pancreatitis occurred. Patient reported an improve life quality due to alleviated chronic abdominal pain and headaches. Conclusions Our case reports a rare yet potentially life-threatening condition—monogenic hypertriglyceridemia-induced acute pancreatitis. The implementation of the antisense drug volanesorsen resulted in improved triglyceride levels, alleviated symptoms, and enhanced the quality of life.

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Chylomicronemia through a burr hole: A case report

Cited by 2 publications

References 25 publications

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report

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