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International Journal of Recent Trends in Science and Technology, ISSN 2277-2812 E-ISSN: 2249-8109
Volume 14, Issue 3, April 2015 pp 487-488
Familial hypercholesterolemia – case report
Prem Krishna Anandan1, Patel Jigarkumar Shukkrabhai2, Rajshekar I Koujalgi3, Cholenahally Nanjappa Manjunath4
1,2,3Resident, 4Director and HOD, Department of Cardiology, Sri Jayadeva Institute of Cariovascular Science and Research, Bengaluru, Karnataka, INDIA.
Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the LDL receptor gene. It is characterized by skin and tendon xanthomas, xanthelasma and arcus Cornea and associated with an increased risk of premature coronary heart disease. We report a case of 26 year old female who presented with xanthomas and elevated serum LDL cholesterol. Her elder sibling had similar complaints. This report is to emphasise the need to clinically recognize xanthomas and its association with elevated LDL-C. Screening of first-degree relatives and extended family members plays an important role in early detection and treatment.