This review highlights the pathogenesis of severe hypertriglyceridemia secondary to LPL deficiency and outlines therapeutic options including diet, apheresis, and emerging gene therapies.
May inform management of rare LPL deficiency; leaves open gene therapy efficacy pending prospective trials.
Severe hypertriglyceridaemia (HTG) is recognised as the third most common cause of acute pancreatitis. While secondary causes of HTG such as excess alcohol, obesity and diabetes are well recognised, identification and treatment of primary genetic disorders such as lipoprotein lipase (LPL) deficiency remain a challenge. HTG secondary to such genetic disorders does not respond to established medical therapy, resulting in recurrent episodes of acute pancreatitis. A very low fat diet remains first-line therapy in the treatment of severe HTG secondary to LPL deficiency, and in resistant cases insulin, heparin and plasma apheresis are used with some success. Viral vector-delivered gene therapy is a novel treatment option that is currently being tested in patients with LPL deficiency with promising results.
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Munigoti et al. (2011) studied this question.
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