A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Authors' conclusion
Our analysis highlights severe organ complications in patients with FPLD, showing differences between genotypes and Mediterranean countries. FPLD3 presents a milder phenotype than FPLD2, but with comparable or even greater severity of metabolic disturbances.
Study context
- Population
- Patients with familial partial lipodystrophy (LMNA or PPARG variants) from 66 independent families in Turkey (83) and Spain (74)66 families
- Participants
- 157 patients
- Exposure
- FPLD2 vs FPLD3; Turkey vs Spain
- FPLD2n = 139
- FPLD3n = 18
- Outcome
- Disease burden of FPLD2 and FPLD3
Methodological detailstwo countries (Turkey and Spain), 66 independent families
- Two countries (Turkey and Spain)
- 66 independent families
Main finding
As reported in the abstract
Disease burden
- Mean age at diagnosis, 20 ± 16 years after first clinical signs
- 39 ± 19 years
- Diabetes (age at diagnosis 34 ± 1 years)
- 92 (59%)
- Hepatic steatosis (age at diagnosis 36 ± 2 years)
- 100 (66%)
- Coronary artery disease
- 26 (17%)
- MI
- 17 (11%)
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| MortalityTurkey vs Spain | P = 0.01 |
- Mortality — Deaths
- 17
- Mortality — Mean time to death
- 75 ± 3 years
- Mortality: Mean time to death shorter in Turkish cohort (68 ± 2 vs. 83 ± 4 years)
Turkey vs Spain
- Turkish patients had lower BMI, higher prevalence of hepatic steatosis, greater TG levels and a tendency towards higher prevalence of coronary artery disease
Mortality
- Cardiovascular events were a major cause of death
Original publication
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries. Diabetes Obes Metab. Published 22 August 2024. doi:10.
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