Available online 31 July 2022

Four subjects with familial chylomicronemia syndrome were identified

Sixty-year clinical/biochemical follow-up was performed in 2 affected patients

Genetic analysis disclosed a single LPL gene defect (c.984 G>T) in homozygosity

Cardiovascular disease/pancreatitis prevalence and long-term survival are discussed

Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder, characterized by marked elevation of plasma triglycerides, often diagnosed in infancy. We describe the long-term follow-up (almost 60 years), the diagnostic assessment and the management of two siblings with severe hypertriglyceridemia and a history of pancreatitis who also developed cardiovascular complications later in life. We recently disclosed that the surviving index case was homozygous for a pathogenic LPL gene variant (c.984 G>T, p.M328I). The same variant was also found in two apparently unrelated siblings with FCS living in the same geographical area as the index case.

Familial chylomicronemia syndrome

Hypertriglyceridemia

Lipoprotein lipase

Genetic analysis

Pancreatitis

Atherosclerosis

Long-term survival

© 2022 Published by Elsevier Inc. on behalf of National Lipid Association.