Bone and Radiologic Findings in Congenital Generalized Lipodystrophy: A Systematic Review and Report of 60 Cases - PubMed
4 hours ago
- #Systematic Review
- #Congenital Generalized Lipodystrophy
- #Bone Abnormalities
- Congenital Generalized Lipodystrophy (CGL) is a rare inherited disorder characterized by near-total loss of subcutaneous adipose tissue, low leptin levels, and severe metabolic comorbidities.
- Common forms are CGL1 (AGPAT2 gene) and CGL2 (BSCL2 gene), with distinct bone phenotypes including diffuse osteosclerosis, lytic-appearing lesions, and high bone mineral density.
- A systematic review of 43 articles (214 cases) and NIH cohort of 60 patients found high prevalence: diffuse osteosclerosis ~37-39%, lytic lesions ~53-64%, and high bone density ~43-68%.
- Bone abnormalities, often affecting long bones, are frequently overlooked despite clinical relevance, linked to mechanisms like altered mesenchymal cell differentiation and insulin/leptin signaling imbalances.