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Severe HDL-C Deficiency Caused by Acquired LCAT Deficiency: A Case Report with Lipidomic Profiling and Anti-LCAT
Tetta Sato1, Junji Kobayashi1, Masayuki Kuroda2
1Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Japan.
None:
Acquired lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare cause of a marked reduction in high-density lipoprotein cholesterol (HDL-C). We report a 75-year-old Japanese woman with a progressive decline in HDL-C from 64 to <2 mg/dL over five years. Laboratory tests showed a markedly decreased LCAT activity and protein levels with anti-LCAT autoantibodies, whereas a genetic analysis revealed no LCAT mutations. Lipidomic profiling demonstrated free cholesterol accumulation, the loss of HDL subclasses, and TG-rich LDL particles. No underlying autoimmune disease was identified. This case highlights the importance of a lipid subclass analysis and the recognition of acquired LCAT deficiency in patients with a marked HDL-C deficiency.
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