Abstract
Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several lipodystrophies is well known. However, the cause of many others remains unknown. The commonest lipodystrophy worldwide is secondary to highly active anti-retroviral therapy in HIV-infected patients. By contrast, primary lipodystrophies (those not associated to any known disease or condition) are much less common and represent a diagnostic challenge. The major complications of lipodystrophies are metabolic, often resulting in severe insulin resistance, diabetes and dyslipidemia. No cure is available for lipodystrophies but the supplementation with recombinant leptin potently controls the metabolic abnormalities when there is a leptin deficiency. Herein, we review the clinical presentation, diagnostic process and therapeutic principles of the main primary lipodystrophy syndromes.
Highlights
Los autores declaran no tener conflictos de interés
Historia familiar de lipodistrofia poco consistente, con casos esporádicos reportados Tipo 2, mutaciones heterocigotas en gen Lamin A/C (LMNA), con transmisión autosómica dominante Tipo 3: mutaciones heterocigotas en el gen Peroxisome proliferator-activated receptor gamma (PPARG), transmisión autosómica dominante Tipo 4: mutaciones heterocigotas en el gen Perilipina 1 (PLIN1), transmisión autosómica dominante
Failure of adipocyte differentiation causes type II diabetes mellitus? Nat Genet 2000; 26: 13
Summary
Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. Las lipodistrofias son síndromes heterogéneos, definidos por reducción del tejido adiposo. En casos de lipodistrofia parcial, la masa adiposa total puede estar disminuida o bien ser normal o incluso estar aumentada, como consecuencia de redistribución del tejido adiposo remanente y lipohipertrofia segmentaria. La paradoja de que tanto el exceso de tejido adiposo (obesidad) como su deficiencia (lipodistrofia) determinan idénticas anormalidades metabólicas, indica que los mecanismos fisiopatológicos de resistencia insulínica son solo parcialmente comprendidos en la actualidad[5]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
