AI Article Synopsis
- Familial hypercholesterolemia is a genetic disorder that leads to high cholesterol levels, often resulting in heart problems at a young age.
- An 18-year-old girl from South India suffered a heart attack, revealing signs like xanthomas (cholesterol deposits) and high LDL cholesterol, highlighting her family's history of early heart issues.
- The report emphasizes the importance of recognizing xanthomas and high LDL levels for early diagnosis and treatment, which can benefit affected individuals and their families.
Article Abstract
Familial hypercholesterolemia is a single gene disorder with an autosomal dominant pattern of inheritance. Here we report an 18 year old South Indian girl who presented with myocardial infarction. She had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). Her mother and maternal uncle had died at a young age due to myocardial infarction. Her only sibling, 15 year old younger sister also had xanthomas and an elevated LDL-C. This report is to emphasise the need to clinically recognize xanthomas and its association with elevated LDL-C, premature atherosclerosis and familial inheritance. Early diagnosis and early initiation of treatment will save the affected individual and the other family members.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3301444 | PMC |
| http://dx.doi.org/10.1186/1757-1626-1-71 | DOI Listing |
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