CEN Case Rep. 2026 May 20;15(3):91. doi: 10.1007/s13730-026-01128-z.
ABSTRACT
Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare hereditary disorder. In FLD, a clinical triad of corneal opacity, anemia, and proteinuria typically precedes progressive renal dysfunction. Although early renal involvement has been widely described, there are limited reports on the long-term course leading to dialysis initiation, including systemic complications. We present a genetically confirmed case of FLD caused by the Cys74Tyr mutation, which had a clinical course exceeding 10 years with the emergence of multisystem complications. The patient initially showed a transient stabilization of renal function following a fat-restricted and protein-restricted diet and renin-angiotensin system blockade; however, subsequent decline occurred despite continued management. During this deterioration phase, systemic complications emerged, including progressive aortic valve stenosis, complete atrioventricular block, heart failure, and cerebellar infarction, in close temporal association with worsening renal function. Hemodialysis initiation led to rapid resolution of erythropoietin-resistant anemia, which may be attributable to the improvement in the uremic milieu following dialysis initiation. This case offers valuable insights into the late-stage progression of FLD. The observations may help determine the point at which renoprotective and metabolic interventions become less effective. Furthermore, the temporal association between renal deterioration and the development of cardiovascular and neurovascular complications suggests the need for careful clinical surveillance during advanced stages of renal dysfunction.
PMID:42159827 | DOI:10.1007/s13730-026-01128-z