Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes.

Abstract

A 44-year-old woman was admitted with pancreatitis caused by hypertriglyceridaemia (fasting triglycerides 28 mmol/L). She used oral contraceptives and ezetimibe 10 mg. She was overweight (body mass index 29.7 kg/m2). Diabetes mellitus was ruled out, as were nephrotic syndrome, alcohol abuse, hypothyroidism and dysbetalipoproteinaemia. Genetic analysis revealed mutations in two genes involved in triglyceride metabolism (apolipoprotein A5 and lipoprotein lipase [LPL]). The LPL activity was 45% compared with pooled healthy controls. The post-heparin triglyceride reduction was 6%, compared with a normal reduction of >20%. The patient was initially treated with gemfibrozil, but this was discontinued due to side effects. Dietary triglyceride restriction and discontinuation of the oral contraceptives lowered the plasma triglycerides within 2 weeks to 3.4 mmol/L. Hypertriglyceridaemia is a risk factor for pancreatitis and cardiovascular disease, and has a broad differential diagnosis including genetic causes. Patients can achieve near-normal triglyceride values with a low-fat diet only.

• Authors: Charlotte Koopal, Remy Bemelmans, A David Marais, Frank Lj Visseren
• Journal: BMJ case reports (BMJ Case Rep) Vol. 12 Issue 4 (Apr 03 2019) ISSN: 1757-790X [Electronic] England
• PMID: 30948399 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• APOA5 protein, human
• Apolipoprotein A-V
• Lipoprotein Lipase

Topics

• Adult
• Apolipoprotein A-V (genetics)
• Female
• Humans
• Hyperlipoproteinemia Type I (genetics)
• Hypertriglyceridemia (genetics)
• Lipoprotein Lipase (deficiency, genetics)
• Mutation
• Pancreatitis (genetics)