Available online 31 July 2022
HIGHLIGHTS•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
ABSTRACTFamilial 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.
KEY WORDSFamilial chylomicronemia syndrome
Hypertriglyceridemia
Lipoprotein lipase
Genetic analysis
Pancreatitis
Atherosclerosis
Long-term survival
View full text© 2022 Published by Elsevier Inc. on behalf of National Lipid Association.
留言 (0)