GL is characterized by a lack of the hormone, leptin.
GL is characterized by a lack of the hormone, leptin.
About GL
Generalized Lipodystrophy (GL) is a rare, complex, and clinically heterogeneous disorder characterized by the widespread lack or loss of subcutaneous adipose tissue in most or all parts of the body, and leading to a deficiency of the hormone leptin.1,2
Widespread lack/loss of tissue and/or METABOLIC ABNORMALITIES (diabetes mellitus, hypertriglyceridemia, insulin resistance)
Think GL
2 types of GL: Congenital and Acquired
1
1
Congenital GL
- Autosomal recessive
- Typically presents as generalized lack of subcutaneous fat in infancy to early childhood
- Negative genetic testing does not rule out GL (since not all mutations have been identified)
- Also known as Berardinelli-seip syndrome
2
2
Acquired GL
- Autoimmune-related or idiopathic origin
- More common in females
- Can present as generalized subcutaneous fat loss in childhood to adulthood
- Also known as Lawrence syndrome
Metabolic Consequences of GL
In GL the lack of adipose tissue can lead to leptin deficiency, which results in metabolic complications, including:
- Insulin resistance
- Diabetes mellitus
- Hypertriglyceridemia
Adipose Tissue and Leptin
Adipose tissue is not a passive reservoir for energy storage—it is a complex and active organ.
Adipose tissue plays a critical role in producing the key hormone leptin to ensure proper metabolic function.
Adipose tissue plays a critical role in producing the key hormone leptin to ensure proper metabolic function.
1. Handelsman Y, Oral EA, Bloomgarden ZT, et al. The clinical approach to the detection of lipodystrophy—an AACE consensus statement. EndocrPract. 2013;19(1):107-116.doi:10.4158/endp.19.1.v767575m65p5mr06. 2. Brown RJ, Araujo-Vilar D, Cheung PT, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline.J Clin Endocrinol Metab. 2016;101(12):4500-4511. doi:10.1210/jc.2016-2466.
