Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations

Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder, character-ized 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. (c) 2022 National Lipid Association. Published by Elsevier Inc. All rights reserved.