Combination of Circulating Antilipoprotein Lipase (Anti-LPL) Antibody and Heterozygous S172 fsX179 Mutation of LPL Gene Leading to Chronic Hyperchylomicronemia
| Autor: | Christophe Marçais, Michel Lagarde, Laurence Perrot, Mireille Delay, Philippe Moulin, Bruno Estour, Valérie Pruneta-Deloche, Agnès Sassolas |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty Endocrinology Diabetes and Metabolism Clinical Biochemistry Hyperlipidemias Context (language use) Biology Gene mutation Biochemistry Endocrinology Internal medicine Chylomicrons medicine Humans Autoantibodies Autoimmune disease Lipoprotein lipase Biochemistry (medical) Hypertriglyceridemia Autoantibody nutritional and metabolic diseases Middle Aged medicine.disease Lipoprotein Lipase Chronic Disease Mutation lipids (amino acids peptides and proteins) Dyslipidemia Lipoprotein |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 90:3995-3998 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | Sporadic hyperchylomicronemia (type V hyperlipoproteinemia) results from complex interactions between genetic and environmental factors that often remain unknown.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.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.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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|