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[Severe hypertriglyceridemia : Diagnostics and new treatment principles].

U Kassner1, M Dippel2, E Steinhagen-Thiessen3

  • 1Charité, Universitätsklinik Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.

Der Internist
|May 19, 2017
PubMed
Summary

Severe hypertriglyceridemia, often due to genetic factors affecting lipoprotein lipase, causes severe pain and pancreatitis. Management focuses on diet, lifestyle, and medications to lower triglyceride levels and reduce cardiovascular risk.

Keywords:
Apolipoprotein C‑II deficiencyChylomicronemia, familialGene therapyLipoprotein lipasePancreatitis, acute

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Severe hypertriglyceridemia is defined by plasma triglyceride levels >885 mg/dl.
  • It can stem from genetic mutations impacting lipoprotein lipase (LPL) function, particularly in individuals under 40.
  • Secondary causes must be ruled out before genetic testing.

Purpose of the Study:

  • To outline the definition, symptoms, and management of severe hypertriglyceridemia.
  • To highlight the risks, including acute pancreatitis and cardiovascular disease.
  • To discuss current and emerging treatment strategies.

Main Methods:

  • Review of clinical manifestations and diagnostic criteria for severe hypertriglyceridemia.
  • Discussion of treatment approaches including diet, lifestyle modifications, and pharmacotherapy.
  • Mention of genetic testing and novel gene therapies for LPL deficiency.

Main Results:

  • Recurrent abdominal pain and acute pancreatitis are hallmark symptoms.
  • Reversible manifestations include eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly.
  • Hypertriglyceridemia increases cardiovascular risk, necessitating management.

Conclusions:

  • Maintaining plasma triglyceride levels below 1000 mg/dl is crucial for preventing pancreatitis.
  • A strict, lifelong diet low in fat and carbohydrates, alongside alcohol abstinence, is fundamental.
  • Pharmacological agents like omega-3 fatty acids, fibrates, and gene therapies offer additional TG-lowering options.