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Open Access 01-12-2024 | Hypertriglyceridemia | Case report

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

Authors: Umidakhon Makhmudova, P. Christian Schulze, Stefan Lorkowski, Winfried März, J.-A. Geiling, Oliver Weingärtner

Published in: Journal of Medical Case Reports | Issue 1/2024

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Abstract

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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Literature
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go back to reference Developed with the special contribution of: European Association for Cardiovascular Prevention & Rehabilitation, Authors/Task Force Members, Reiner Z, et al. ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J. 2011;32(14):1769–1818. https://doi.org/10.1093/eurheartj/ehr158. Developed with the special contribution of: European Association for Cardiovascular Prevention & Rehabilitation, Authors/Task Force Members, Reiner Z, et al. ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J. 2011;32(14):1769–1818. https://​doi.​org/​10.​1093/​eurheartj/​ehr158.
Metadata
Title
Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report
Authors
Umidakhon Makhmudova
P. Christian Schulze
Stefan Lorkowski
Winfried März
J.-A. Geiling
Oliver Weingärtner
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2024
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-024-04532-0

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