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“When Raeya was born, I noticed she didn’t have all the extra fat that babies usually have; she was really muscular and her stomach was sticking out” – Jilandra, Raeya’s mother 
The Faces of GL The Faces of GL

WIDESPREAD LACK OR LOSS OF ADIPOSE TISSUE AND METABOLIC ABNORMALITIES1
COULD IT BE GENERALIZED LIPODYSTROPHY (GL)?

Arms

​Prominent muscular appearance1,3

Face and Neck

Pseudoacromegaly and loss of fat1-5

GLUTEUS

Loss of fat in gluteal region3,6

Legs

Prominent muscular appearance1

Feet

Pseudoacromegaly, including enlarged feet1,5

About Generalized LIPODYSTROPHY

GL is a rare, complex, and clinically heterogeneous disorder characterized by the widespread lack or loss of adipose tissue, leading to relative leptin deficiency and associated metabolic abnormalities.1,6

Female patient with AGL

The 2 types of Generalized LIPODYSTROPHY

There are 2 types of GL: congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, and acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome.

8 year old African American female with CGL

How to diagnose generalized lipodystrophy

The American Association of Clinical Endocrinologists (AACE) task force recommends considering a group of clinical characteristics that may lead to early detection of generalized lipodystrophy.1

11 year old boy with CGL

References:  1. Handelsman Y, Oral EA, Bloomgarden ZT, et al; for American Association of Clinical Endocrinologists. The clinical approach to the detection of lipodystrophy – an AACE consensus statement. Endocr Pract. 2013;19(1):107-116.  2. Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab. 2003;88(11):5433-5437.  3. Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy case reports and review of the literature. Medicine (Baltimore). 2003;82(2):129-146.  4. Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2-28.  5. Al-Attar SA, Pollex RL, Robinson JF, et al. Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. BMC Med Imaging. 2007;7:3.  6. Kershaw EE, Flier JS. Adipose tissue as an endocrine organ. J Clin Endocrinol Metab. 2004;89(6):2548-2556.

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