Case Studies| Volume 13, ISSUE 3, P405-410, May 2019

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

Published:February 16, 2019DOI:


      • We describe a new homozygous LDLRAP1 gene variant, c.143T>C; p.(Phe48Ser).
      • This variant was associated with ARH in a woman of central European ancestry.
      • This is the first ARH case found in Central European populations.
      • Homozygosity for LDLRAP1 c.143T>C led to early onset of CHD, stroke, and xanthomas.
      • Aggressive lipid-lowering therapy is not sufficient in LDLRAP1 deficiency.


      We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.


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