Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4
| Autor: | Akihiro Nishimura, Minoru Okubo, Yasumichi Mori, Makoto Arai, Tetsu Ebara |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Apolipoprotein E medicine.medical_specialty Apolipoprotein B Clinical Biochemistry Biochemistry Apolipoproteins E Internal medicine medicine Humans Protein Isoforms Hypertriglyceridemia Lipoprotein lipase Base Sequence biology business.industry Biochemistry (medical) Haplotype General Medicine Middle Aged medicine.disease Phenotype Endocrinology Pancreatitis Acute Disease biology.protein Etiology Acute pancreatitis lipids (amino acids peptides and proteins) business Sequence Analysis |
| Zdroj: | Clinica Chimica Acta. 436:188-192 |
| ISSN: | 0009-8981 |
| Popis: | Background The etiology of hypertriglyceridemia is complex and one of the common variants in affecting plasma lipid levels is apolipoprotein (apo) E isoform. Scores of apo E variants have been reported, including apo E7. However, a clinical lipid phenotype of apo E7 has not been fully elucidated. Methods A 48-year-old Japanese male had hypertriglyceridemia and a history of repeated episodes of acute pancreatitis. The measurement of serum apolipoproteins and apo E phenotyping, and the sequencing analyses of several genes regulating triglyceride metabolism were performed in the patient. Results The apo E phenotype of the patient was E7/E4. Apo E7 had the same point mutations p.[E244K; E245K] in APOE as reported previously. In addition, he had APOA5 haplotypes associated with hypertriglyceridemia. Laboratory examinations excluded deficiency of apolipoproteins, lipoprotein lipase, and GPI-HBP1 in this patient. Conclusions This is, to our knowledge, the first report of severe hypertriglyceridemia and acute pancreatitis in a patient with apo E7. |
| Databáze: | OpenAIRE |
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