Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome
Authors' conclusion
Parental lineage may influence the phenotype of FPLD2: patients with a maternally inherited LMNA variant tend to preserve more adipose tissue in the upper body, while those with a paternally inherited variant experience greater adipose tissue loss in that region, often associated with more severe metabolic complications. These findings highlight the importance of contemplating parental lineage as a relevant factor when evaluating the clinical presentation and management of patients with FPLD2.
Study context
- Population
- Patients with familial partial lipodystrophy type 2 (FPLD2) due to LMNA pathogenic variants, 4 centres
- Participants
- 83 patients
- Exposure
- Maternal vs paternal inheritance of LMNA variants
- Maternal inheritancen = 49
- Paternal inheritancen = 34reference
- Outcome
- Clinical and metabolic phenotype: current age
Methodological detailsmulticentre
- Multicentre
Main finding
As reported in the abstract
P = 0.042
Observational data: associations, not effects.
Further findings
Age at diagnosis of lipodystrophy · earlier with maternal inheritance
P = 0.044
Arm body fat percentage · higher with maternal inheritance
P = 0.034
Trunk body fat percentage · higher with maternal inheritance
P = 0.024
- Fatty liver disease · more prevalent with paternal inheritance
- P = 0.029
- Pancreatitis · more prevalent with paternal inheritance
- P = 0.033
Original publication
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