Severe HDL-C Deficiency Caused by Acquired LCAT Deficiency: A Case Report with Lipidomic Profiling and Anti-LCAT Autoantibody Detection.

Source: PubMed, NCBI / U.S. National Library of Medicine

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.