Inherited Lipodystrophies and the Metabolic Syndrome

Houshang Monajemi; Erik Stroes; Robert A. Hegele; Eric Fliers

Disclosures

Clin Endocrinol. 2007;67(4):479-484. 

In This Article

Summary and Introduction

Summary

Lipodystrophies represent a heterogeneous group of diseases characterized by an abnormal subcutaneous fat distribution, the extent of which can vary from localized, to partial, to generalized lipoatrophy. Whereas partial and generalized lipodystrophies are each associated with metabolic abnormalities, the localized form is not. These metabolic changes include insulin resistance with type 2 diabetes, acanthosis nigricans, dyslipidaemia predominantly consisting of hypertriglyceridaemia (associated with the onset of pancreatitis) and depressed HDL cholesterol, liver steatosis and hypertension. Affected women are often hirsute and this can be associated with the presence of polycystic ovarian syndrome (PCOS). Most of these clinical features are present to some extent in patients with the common metabolic syndrome. As the prevalence of metabolic syndrome far outweighs that of lipodystrophy, the diagnosis of this rare disorder may often be overlooked with the affected patient diagnosed as merely being 'yet' another case of metabolic syndrome. In this article, we draw attention to the importance of recognizing patients with lipodystrophy who present with metabolic abnormalities, as both the diagnostic as well as the therapeutic approach of these patients differ profoundly from patients with the metabolic syndrome.

Introduction

Since the first description of lipodystrophy associated with metabolic abnormalities by Berardinelli,[1] major advances have unravelled the molecular genetic basis of these disorders. Several classifications have been proposed during the past decade. Whereas the initial classifications were based predominantly on clinical phenotype (generalized vs. partial), later classifications were based on mode of inheritance (dominant vs. recessive). More recently, with discovery of the genetic basis for several types and subtypes of lipodystrophies, diagnosis and classification has been based on the causal molecular genetic defect.

For a physician the clinical phenotype is the most important and expedient diagnostic tool; thus we will discuss the clinical classification (i.e. generalized vs. partial, summarized in Table 1 ), based on the OMIM database (Online Mendelian Inheritance in Man, (http://www.ncbi.nlm.nih.gov/entrez), taking into account recently published articles on lipodystrophy. Acquired lipodystrophies will not be discussed, as these have been the subject of an excellent recent review.[2]

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