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Combination of Circulating Antilipoprotein Lipase (Anti-LPL) Antibody and Heterozygous S172 fsX179 Mutation of LPL Gene Leading to Chronic Hyperchylomicronemia

Unité Mixte de Recherche 585 Institut National de la Santé et de la Recherche Médicale/Institut National des Sciences Appliquées (V.P.-D., C.M., M.L., P.M.), Physiopathologie des Lipides et Membranes, 69621 Villeurbanne cedex, France; Laboratoire de biochimie (C.M., M.D.), Centre hospitalier Lyon-Sud, Pierre Bénite, France; Unité 11 (L.P., P.M.), Hôpital Cardiovasculaire Louis Pradel, Lyon-Bron, France; Laboratoire de biochimie (A.S.), Hôpital neurologique, Lyon, France; and Service d’Endocrinologie (B.E.), Hôpital Bellevue, Saint-Etienne, France

Address all correspondence and requests for reprints to: Valérie Pruneta-Deloche, Unité Mixte de Recherche 585 Institut National de la Santé et de la Recherche Médicale/Institut National des Sciences Appliquées, Bâtiment Louis Pasteur, 20 avenue Albert Einstein, 69621 Villeurbanne cedex, France. E-mail: valerie.pruneta-deloche{at}insa-lyon.fr.

Context: Sporadic hyperchylomicronemia (type V hyperlipoproteinemia) results from complex interactions between genetic and environmental factors that often remain unknown.

Design: Upon investigation of a patient suffering from recurrent hypertriglyceridemic pancreatitis without family history or conventional secondary cause of dyslipidemia, we identified a previously unreported nonsense heterozygous lipoprotein lipase (LPL) gene mutation S172fsX179 associated with an antihuman LPL IgG.

Results: This autoantibody partially inhibited wild-type LPL activity in vitro. Furthermore, the patient’s plasma triglyceride concentrations were efficiently decreased under immunosuppressive treatment, and this was confirmed by sequential withdrawal/reintroduction tests.

Conclusions: We consider that this unique combination of a genetic defect and an autoimmune disease results in chronic major hypertriglyceridemia. Because immunosuppressive treatment can improve this dyslipidemia, assessment of anti-LPL autoantibody is worthwhile in unmanageable chronic major hypertriglyceridemia, even in the presence of a heterozygous LPL deficiency.