Bone phenotype of patients with genetic forms of lipodystrophy: a systematic review of literature.
Elif Kusgozoglu, Daniela Q C M Barge-Schaapveld, Patrick C N Rensen et al.
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In 30 seconds
This systematic review examined bone manifestations in people with genetic lipodystrophies, using human studies identified through searches of PubMed, EMBASE, and the Cochrane Library. Of 2632 records identified, 15 studies met inclusion criteria. In congenital generalized lipodystrophy types 1 and 2, reports described osteolytic lesions, bone cysts, osteosclerosis, and pseudo-osteopoikilosis, mainly in long bones; trabecular-site bone mineral density was generally normal to high. Familial partial lipodystrophy type 2 was associated with lower cortical-site bone mineral density and lower trabecular bone score. Evidence was absent for CGL3 and CGL4.
Key findings
- Of 2632 studies identified, 15 met the review’s inclusion criteria; most concerned CGL1 or CGL2.
- CGL1 and CGL2 reports described osteolytic lesions, bone cysts, osteosclerosis, and pseudo-osteopoikilosis, predominantly in long bones.
- In CGL1 and CGL2, bone mineral density was generally normal to high at trabecular sites.
- FPLD2 was characterized by reduced cortical-site bone mineral density and lower trabecular bone score.
Why it matters
The review indicates that skeletal involvement may accompany genetic lipodystrophy and can differ by subtype and bone compartment. Recognizing this range of findings may help clinicians consider bone manifestations as part of the broader phenotype, while the limited and uneven evidence underscores uncertainty about bone risk and mechanisms.
What to keep in mind
Only 15 studies met inclusion criteria, and evidence was concentrated in CGL1 and CGL2; no studies were found for CGL3 or CGL4. The review calls for standardized, genetically stratified studies.