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CASE REPORT
Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes
  1. Charlotte Koopal1,
  2. Remy Bemelmans2,
  3. A David Marais3 and
  4. Frank LJ Visseren4
  1. 1 Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands
  2. 2 Ziekenhuis Gelderse Vallei, Ede, The Netherlands
  3. 3 Division of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa
  4. 4 Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands
  1. Correspondence to Dr Charlotte Koopal, c.koopal{at}umcutrecht.nl

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.

  • lipid disorders
  • pancreatitis
  • cardiovascular medicine
  • genetics
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Footnotes

  • Contributors CK wrote the manuscript and prepared the figures. RB is the patients’ physician and did all communication with her. He read and approved the manuscript. ADM performed some of the lipid analysis. He read and approved the manuscript. FLJV is head of the department of Vascular Medicine. He read and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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