The Genetic Determination of Tendency to Cardiovascular Disease in the two Bardet Biedl Syndrome with Metabolic syndrome

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 690-701-Obesity Pathophysiology
Translational
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-690
Ayša Ergur Torel*1, Ozkan Ergur2 and Suzan Akyıldız3
1Ankara Ufuk University,Faculty of Medicine, Ankara, Turkey, 2Ataturk Research Hospital,, Ankara, Turkey, 3Ataturk Research Hospital,, Ankara, Turkey
Bardet-Biedl syndrome is a genetic autosomal recessive disorder, characterized by  abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal dystrophy or pigmentary retinopathy and renal constitutional abnormalities or functional impairment. Obesity and metabolic syndrome are common manifestations in the Bardet-Biedl syndrome. Obesity associated with metabolic syndrome in early childhood increases the risk of prothrombotic and cardiovascular diseases. In syndromic cases with obesity such as Bardet-Biedl, possibility that myocardial infarction and thromboembolic events could develop at early age should be considered. In this study, whether there were polymorphisms on cardiovascular susceptibility genes were investigated in two Bardet-Biedl cases who visited with obesity and in whom metabolic syndrome was determined. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes.

 In conclusion, in syndromic cases with metabolic syndrome, possibility that thromboembolic diseases and myocardial infarction could develop at early age should be kept in mind. Detecting genetic susceptibility in such cases and monitoring the patients may be life saving especially in conditions at risk such as dehydration, severe infection, and operation.

Nothing to Disclose: AE, OE, SA

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

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