Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review
Authors' conclusion
This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.
Study context
- Population
- Patients with lipodystrophy syndromes carrying pathogenic LMNA variants: own cases and published cases from 94 studies115 own + 379 published cases
- Participants
- 494 patients
- Comparison
- R482W vs R482Q variant carriers
- Outcome
- Clinical and metabolic features
Pooled result
As reported in the abstract
- Dyslipidemia, earliest biochemical evidence, in all patients
- 83%
- Median age at dyslipidemia
- 26 (10) years
- Diabetes reported
- 61%
- Median age at acute pancreatitis diagnosis, among 39 patients with acute pancreatitis
- 20 (17) years
- Odds of pancreatitis with diabetes vs without
- 3.2 times
- Odds of pancreatitis with hypertriglyceridemia vs without
- 12.0 times
Further pooled results
Age · younger with R482W
P < 0.001
Age at diabetes diagnosis · earlier with R482W
P < 0.001
| Outcome | R482W | R482Q | P value |
|---|---|---|---|
| BMILower with R482W | 24 | 25 | P = 0.037 |
- Age: spread printed in brackets: 24 vs 25
- Age at diabetes diagnosis: spread printed in brackets: 18 vs 17
- BMI: spread printed in brackets: 5 vs 4
Metabolic characteristics and complications
- R482Q and R482W were associated with similar metabolic characteristics and complications
Original publication
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review. J Clin Endocrinol Metab. Published 16 October 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →