Familial hypercholesterolemia with extensive coronary artery disease and tuberous and tendinous xanthomas: A case report and mutation analysis

Agirbasli D., Hyatt T., Agirbasli M. A.

JOURNAL OF CLINICAL LIPIDOLOGY, vol.12, no.4, pp.863-867, 2018 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Editorial Material
  • Volume: 12 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.1016/j.jacl.2018.04.008
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.863-867


This is a case report of a 38-year-old Syrian refugee male with early-onset extensive atherosclerosis. The physical and laboratory examination were remarkable with severe xanthomas in the upper and lower extremities and with low-density lipoprotein cholesterol (LDL-C) 417 mg/dL, total cholesterol 495 mg/dL, high-density lipoprotein cholesterol 30 mg/dL, and triglycerides 242 mg/dL. LDL-C level responded poorly to the high-dose statin treatment. The genetic analysis indicated that the patient had a large homozygous deletion in LDL receptor gene including the exons 7-14. A 12-kb deletion had occurred between the 2 Alu repetitive sequences that were oriented in opposite directions, one in intron 6 and the other in intron 14. This deletion eliminated exons 7-14, which exactly corresponded to the entire exon sequence coding the epidermal growth factor precursor homology domain. This deletion in LDL receptor was previously reported. This rare case of homozygous familial hypercholesterolemia presenting with multiple large and widely distributed xanthomas implicates the need for novel treatment options in familial hypercholesterolemia patients. The case is a Syrian refugee and emphasizes the urgent need to address orphan disease in refugee populations throughout the world. (C) 2018 National Lipid Association. All rights reserved.