GL And PL - the different forms
Both forms, generalised and partial lipodystrophy, can be familial or acquired1; prevalence is less than 1 (generalised forms) and less than 3 (partial forms) per million respectively. There are also further subtypes with partially defined genetic characteristics and different manifestations. The cause of the acquired forms has not yet been clarified sufficiently. Autoimmune and/or infectious causes are being discussed.3,4,5
Subtypes and characteristics of generalised lipodystrophy 3,4,5,6,7,8
Congenital generalised lipodystrophy |
Acquired generalised lipodystrophy |
![]() Raeya, congenital lipodysthrophy GL | |
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Appearance |
![]() Lack Variable fat |
![]() Loss Variable fat |
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Mean age of onset |
0.3 years (range 0.0-12.0 years) |
5 years (range 0.0-15.0 years) |
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Gender distribution |
1:1-2 |
1:3 |
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Typical presenting |
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Signs and symptoms |
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Subtypes seen |
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Subtypes and characteristics of partial lipodystrophy1,3,4,5,7,9,10
Familial partial lipodystrophy |
Acquired partial lipodystrophy |
![]() Linda, familial lipodystrophy PL |
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Appearance |
![]() Loss Variable fat |
![]() Loss Variable fat |
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Mean age of onset |
9.9 years (range 0.0-16.0 years) |
8.2 years (range 0.5-16.0 years) |
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Gender distribution |
1:1-2 |
1:4 |
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Typical presenting |
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Signs and symptoms |
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Subtypes seen |
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Causes of lipodystrophy not fully known (autoimmune or genetic) |
With familial PL in particular, subcutaneous loss of fat may not directly be perceived as a main symptom. Attention should be paid to any loss of subcutaneous fatty tissue on the arms or legs. By contrast, there can be fat accumulations in the area of the face and neck (buffalo’s or bull’s neck), particularly in women. The ectopic, intra-abdominal fat deposits with a corresponding increase in abdominal girth can lead to a Cushingoid or obese appearance.5
In the acquired form of PL, loss of fat is mostly slow, starting from the head to the upper abdomen. There can, however, be fat accumulation in the area of the buttocks, hips and lower extremities.5 The typical “saddlebags” appearance develops.
Pay attention to patients with unusual fat distribution and a Cushingoid appearance: they could have PL!
1 Brown et al., The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016; 101: 4500 – 4511.
2 Chiquette E, Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2017:10 375-383.
3 Gupta et al., Clinical Features and Management of non-HIV related Lipodystrophy in Children: A Systematic Review. J Clin Endocrinol Metab. 2017; 102: 363 - 374“
4 Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. J Hum Genet 2014;5:16-23.
5 Handelsman Y, Oral EA, Bloomgarden ZT, et al. The clinical approach to the detection of lipodystrophy – An AACE Consensus Statement. Endocr Pract 2013;19:107–116.
6 Garg A, Misra A. Hepatic steatosis, insulin resistance, and adipose tissue disorders. J Clin Endocrinol Metab 2002;87:3019-22.
7 Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystro¬phy. J Clin Endocrinol Metab 2003;88:4840-47.
8 Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore) 2003;82:129-46.
9 Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 2000;85:1776-82.
10 Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore) 2004;83:8318-34.