Genetic forms of the cardiometabolic syndrome: what can they tell the clinician?

Abstract

A well-worn medical aphorism states that "when you hear hoof beats, think of a horse and not a zebra." When applying this principle to the cardiometabolic syndrome (CMS), the horse would be represented by the prevalent CMS phenotype that affects approximately 30% of individuals in Westernized societies, while the zebra is represented by very rare conditions--such as lipodystrophy syndromes--that share some features with the more prevalent CMS. For instance, familial partial lipodystrophy types 2 and 3 result from heterozygous mutations in LMNA, encoding nuclear lamin A/C, and in PPARG, encoding peroxisome proliferator-activated receptor (PPAR)-gamma, respectively. Patients with either subtype of partial lipodystrophy exhibit an increased ratio of central to peripheral fat stores, dysglycemia, dyslipidemia, and hypertension, with predisposition for developing insulin-resistant diabetes and atherosclerosis end points. Sometimes, however, the zebra serves as a model that can help us understand the horse, so that the rare partial lipodystrophies might offer some insight into pathogenesis and treatment of the more prevalent CMS.

• Authors: George Yuan, Robert A Hegele
• Journal: Journal of the cardiometabolic syndrome (J Cardiometab Syndr) Vol. 2 Issue 1 Pg. 45-8 ( 2007) ISSN: 1559-4564 [Print] United States
• PMID: 17684446 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Humans
• Lipodystrophy (genetics)
• Lipodystrophy, Familial Partial (genetics, therapy)
• Metabolic Syndrome (genetics)
• Obesity (complications)