A delayed diagnosis of familial chylomicronemia syndrome in an elderly patient: Clinical implications of late-onset disease
Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in genes regulating lipoprotein lipase activity, typically manifesting early in life. CASE PRESENTATION: We describe a 70-year-old man with severe refractory hypertriglyceridemia, chronic hyperCKemia, and protein-energy malnutrition, ultimately diagnosed with FCS due to a homozygous pathogenic LPL variant (c.844G>T; p.Glu282*). Despite long-standing disease and comorbidities, treatment with volanesorsen, an antisense oligonucleotide targeting apolipoprotein C-III mRNA, produced a 74% reduction in triglyceride levels and marked clinical improvement. This case underscores that FCS may remain undetected until late adulthood, particularly when confounded by diabetes or chronic kidney disease. CONCLUSION: Recognition of characteristic biochemical profiles and family history is essential to avoid diagnostic delay and prevent irreversible pancreatic damage and malnutrition. Even in elderly patients, targeted therapy can substantially improve metabolic control and quality of life.
Source: Journal of clinical lipidology
Authors: Ilenia Calcaterra, Nicoletta Vitelli, Maria Donata Di Taranto, Carmine De Luca, Sofia Donnarumma, Vincenzina Palermo, Giovanna Cardiero, Gabriella Iannuzzo, Domenico Rendina, Giuliana Fortunato, Matteo Di Minno
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,510
OpenAlex ID: W7116091384