What is it about?
Familial hypercholesterolemia (FH) is a common but commonly missed diagnosis. Tendon xanthomas are a physical sign strongly suggestive of FH.
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Why is it important?
Physicians must identify tendon xanthomas, apply validated clinical scoring such as the Dutch Lipid Clinic Network criteria and offer cascade screening. This approach will increase recognition of FH.
Perspectives
The recognition of Familial Hypercholesterolemia remains sub-optimal in both developed and developing countries in the Caribbean/North America. This, despite the estimated prevalence of 1 in 200-500 which makes it one of the most common genetic diseases. Validated tools for diagnosis exist and awareness must be raised among healthcare providers. These criteria include physical findings which are highlighted in this case report.
Dr Satish Maharaj
University of Florida
Read the Original
This page is a summary of: Familial hypercholesterolemia presenting with multiple nodules of the hands and elbow, Clinical Case Reports, April 2015, Wiley,
DOI: 10.1002/ccr3.249.
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