Familial hypercholesterolemia: The skin speaks.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33110883.
- Also identified by DOI 10.4103/jfmpc.jfmpc_819_20 and PMC identifier 7586528.
- Licence recorded as CC BY-NC-SA.
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Abstract
Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipoprotein metabolism caused by defects in the low-density lipoprotein receptor (LDLR) gene. It is characterized by high low-density lipoprotein (LDL) cholesterol levels, premature cardiovascular disease (CVD), and tendon xanthomas. We present the case of a 26-year-old gentleman who presented with multiple nodular eruptions over the extensor aspects of upper and lower limbs and was diagnosed as FH on the basis of positive family history, typical lipid profile abnormalities, and biopsy of the nodule consistent with tendon xanthomas. The diagnosis and management of this case is deftly feasible at the primary care level.