Acquired Generalized Lipodystrophy with Extensive Autoimmune Involvement: A Case Report and Review of the Literature

This case is unusual in that (i) it was associated with several autoimmune diseases (Graves' disease, Addison's disease, vitiligo, and alopecia); (ii) leptin levels were normal despite lipodystrophy; (iii) her Graves' disease was associated with severe eye disease. Given the distinct but unusual phenotype (multiple autoimmune diseases associated with generalized lipodystrophy in the absence of hypoleptinemia) and parental consanguinity, despite negative targeted gene sequencing, our patient's AGL may have been due to a novel, autosomal recessive genetic variant. Whole-genome sequencing would be useful in this case to try to determine a genetic cause to provide new insights into AGL and the underlying autoimmune mechanisms.