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Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2
Julieta Lazarte1, Jian Wang2, Adam D McIntyre2
1Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Abstract:
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 in 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.
Insights
Familial partial lipodystrophy (FPLD) patients with diabetes have a higher risk of severe hypertriglyceridemia (HTG) and pancreatitis. This study found these complications are common in FPLD2 patients with diabetes, but not in those without.
Area of Science:
- Genetics and Endocrinology
- Metabolic Disorders
- Lipid Metabolism
Background:
- Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by abnormal fat distribution.
- FPLD is a differential diagnosis for severe hypertriglyceridemia (HTG) and pancreatitis.
- LMNA gene variants are common causes of FPLD.
Purpose of the Study:
- To determine the prevalence of severe HTG and pancreatitis in FPLD patients.
- To investigate the association between diabetes and these complications in FPLD.
- To analyze lipid profiles in FPLD patients with specific LMNA variants.
Main Methods:
- Retrospective analysis of 74 FPLD patients in a lipid clinic.
- Inclusion of patients with LMNA p.R482Q and p.R482W variants.
- Assessment of lipid profiles, triglyceride levels, and history of pancreatitis.
Main Results:
- 28% of patients had diabetes; 62% did not.
- Severe HTG (> 10 mmol/L) and pancreatitis occurred in 5.4% of patients.
- All patients with severe HTG also had diabetes (14.3% of diabetic patients).
- FPLD2 patients without diabetes had only mild HTG and no pancreatitis.
Conclusions:
- Severe HTG and pancreatitis are more prevalent in FPLD2 patients with diabetes.
- Diabetes is a critical factor in the development of severe hypertriglyceridemia and pancreatitis in FPLD.
- Early detection and management of diabetes are crucial for FPLD patients.
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