Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2

Familial partial lipodystrophy (FPLD) is a rare Mendelian condition listed in the differential diagnosis of severe hypertriglyceridemia (HTG) and pancreatitis. Here we determined the prevalence of severe HTG and pancreatitis among a cohort of 74 FPLD patients assessed in a lipid clinic. We studied lipid profiles from individuals with either of the two most common pathogenic monoallelic variants LMNA, namely p.R482Q (N = 51) and p.R482W (N = 23). In total, 28 (37.8%) patients with a mean age of 41.8 +/- 14.8 years had diabetes, while 46 (62.2%) patients with a mean age of 35.4 +/- 19.4 years had no diabetes. Among patients with and without diabetes, median TG levels (interquartile range) were 2.73 (4.78) and 1.86 (1.66) mmol/L (242 [423] and 165 [147] mg/dL), respectively. Overall, 4 subjects (5.4%) had triglyceride levels > 10 mmol/L (> 885 mg/dL), of whom 3 (4.1%) had a history of hospitalization for acute pancreatitis. All 4 patients with severe HTG had diabetes, i.e. 14.3% of those with diabetes. In contrast, FPLD2 patients without diabetes had only mild HTG, with no instances of severe HTG or pancreatitis. Thus, among this selected lipid clinic cohort with lipodystrophy, severe HTG and pancreatitis in FPLD2 are relatively common when diabetes is present. (C) 2021 National Lipid Association. Published by Elsevier Inc.

Automated summary

Familial partial lipodystrophy (FPLD) is a rare Mendelian condition that can lead to severe hypertriglyceridemia (HTG) and pancreatitis. Results from a study on 74 FPLD patients showed that 37.8% of patients with an average age of 41.8 had diabetes, while 62.2% of patients with an average age of 35.4 did not have diabetes. Severe HTG and pancreatitis were more common in FPLD2 patients with diabetes compared to those without diabetes.