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Lipodystrophic syndromes

Author
Christos Mantzoros, MD, DSc
Section Editor
David M Nathan, MD
Deputy Editor
Jean E Mulder, MD

INTRODUCTION

The lipodystrophic syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy) [1,2]. In some of these disorders, there is also the apparent accumulation of fat in other regions of the body.

The extent of fat loss correlates with the severity of the metabolic abnormalities. Clinically, patients with severe lipodystrophy have severe insulin resistance and a group of unique features, such as severe hyperlipidemia, progressive liver disease, and increased metabolic rate (table 1). Acquired and congenital lipodystrophies may also be associated with proteinuric kidney diseases, and renal biopsy of patients with nephrotic range proteinuria has revealed focal segmental glomerulosclerosis or membranoproliferative glomerulonephritis [3,4].

There is little understanding of the molecular basis for these disorders, but it is likely that multiple molecular defects are responsible (figure 1). A widely accepted classification of the various types of lipodystrophies is presented in the table (table 2). Other disorders that need to be differentiated from lipodystrophies are listed in the table (table 3).

The current most prevalent form, by far, of lipodystrophy is in patients with human immunodeficiency virus (HIV) infection, and is likely related to antiretroviral therapy. HIV-related lipodystrophy is discussed separately. (See "Treatment of HIV-associated lipodystrophy".)

GENERALIZED LIPODYSTROPHY

These are rare but clinically striking disorders that may be congenital (Seip-Berardinelli syndrome) [5,6] or acquired (Lawrence syndrome) [7]. Their prevalence has been estimated to be less than one case per one million people.

                                     

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Literature review current through: Nov 2016. | This topic last updated: Mon Jul 27 00:00:00 GMT+00:00 2015.
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