Xanthomatosis: An Insight to Familial Hypercholesterolemia
Journal Title: National Journal of Laboratory Medicine - Year 2016, Vol 5, Issue 1
Abstract
Familial hypercholesterolemia is a “RECEPTOR DISEASE” that is the consequence of a mutation in the gene encoding the receptor for low-density lipoprotein, which is involved in the transport and metabolism of cholesterol. It is associated with skin and tendon xanthomas, xanthelasma, premature arcus corneae and increased risk of premature coronary heart disease. Here we present a case of 10 years old boy who presented with xanthomas and an elevated serum low density lipoprotein. His father had similar clinical history. The subject was Fredericks Phenotype II A – with increased LDL cholesterol. This report is to emphasise the need to screen first-degree relatives and extended family members as early intervention and diagnosis will save the affected individual from catastrophic cardiac events.
Authors and Affiliations
Dr. Jaya Manchanda, Dr. Ritu Gogia, Dr. Sanjay Gogia, Dr. A. K. Verma
Keywords
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- EP ID EP378717
- DOI 10.7860/NJLM/2016/15619:2093
- Views 121
- Downloads 0
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