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Research Letter
September 07, 2016

Pathognomonic Palmar Crease Xanthomas of Apolipoprotein E2 Homozygosity-Familial Dysbetalipoproteinemia

Author Affiliations
  • 1Cholesterol, Metabolism, and Thrombosis Center, MMA-Jewish Hospital, Cincinnati, Ohio

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Dermatol. Published online September 7, 2016. doi:10.1001/jamadermatol.2016.2223

It is important for all clinicians, especially dermatologists, to recognize the rare diagnostic physical sign of familial dysbetalipoproteinemia (FD), palmar crease xanthoma (PCX),1 because it is an early warning sign to initiate diagnostic tests (apolipoprotein [apoE] genotyping, lipid profiling, documentation of dysbetalipoproteinemia by ultracentrifugation or nuclear magnetic resonance lipid profiling), and thus enables treatment. Familial dysbetalipoproteinemia, a rare familial hyperlipidemia, is very sensitive to treatment with fibrates and/or statins,2 with lipid normalization and reduction in risk of atherosclerotic cardiovascular disease (ASCVD).3 Approximately 20% of patients with FD have characteristic palmar xanthomas.1 Our specific aim was to assess dermatologic manifestations of FD (type 3 hyperlipoproteinemia) with the mutant apoE2/2 genotype, and emphasize the centrality of the dermatologist in a diagnostic-therapeutic role in identifying unique palmar xanthomas.

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