ECE2018 Poster Presentations: Diabetes, Obesity and Metabolism Cardiovascular Endocrinology and Lipid Metabolism (25 abstracts)
A case of combined dyslipidemia with two different defined genetic alterations
Aydın Tuncer Sel 1 , Müjde Aktürk 1 , Muzaffer Serdar Deniz 1 , Başak Bolayır 1 , Fatih Süheyl Ezgü 2 , Alev Altınova 1 , Füsun Törüner 1 & İlhan Yetkin 1
1Department of Endocrinology and Metabolism, Gazi University Faculty of Medicine, Ankara, Turkey; 2Department of Pediatric Metabolism, Gazi University Faculty of Medicine, Ankara, Turkey.
Background: There are plenty of primary genetic or secondary causes for both hypercholesterolemia and hypertriglyceridemia. Two different genetic causes in one patient does not generally come to mind in first place.
Aim: We report a case who has two genetic alterations as a cause of hypercholesterolemia and hypertriglyceridemia.
Case report: 62 year-old male referred because of high serum lipid levels. He had no active complaint. There were type 2 DM, hypertension for 15 years and an ischemic cerebrovascular event 10 years ago in his medical story. His medications included metformin, valsartan and ASA. Statin therapy was started 5 years ago but has not been using it for two years. He had no family history for pancreatitis, early-onset coronary heart disease and cerebrovascular disease. Tendon or tuberous xanthoma, xanthelesmas were not present in his physical exam. Laboratory analysis showed that LDL-C: 248 mg/dl (60–130) Total Cholesterol: 393 mg/dl (110–200) HDL-C: 63 mg/dl (40–60) Triglyceride: 506 mg/dl (<150). Fasting blood glucose was 98 mg/dl, HbA1c: 5.9%. His kidney, liver and thyroid function tests were normal. ECG, echocardigram and carotid arterial doppler USG revealed no pathology. Abdominal USG showed grade 2 hepatosteatosis. According to genetic testing for familial causes for hypercholesterolemia and hypertriglyceridemia; we found a heterozygous change in LDLR gene (c.1706-10G>A) which is accepted as a mutation for familial hypercholesterolemia. We also found a heterozygous change in APOA5 gene p.Ser19Trp (c.56 C>G) which is suggested for an increasing in tendency for hypertriglyceridemia.
Conclusions: Although very rare, different genetic alterations can be together in patients with high LDL-C and high triglyceride levels.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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