Genetic syndromes with localized subcutaneous fat tissue accumulation

Genetic syndromes with localized subcutaneous fat tissue accumulation

Authors

  • Vincenza Precone MAGI Euregio, Bolzano, Italy
  • Shila Barati MAGI Euregio, Bolzano, Italy
  • Stefano Paolacci MAGI'S LAB
  • Marzia Salgarello Centre for Surgical Treatment of Lymphedema, Plastic Surgery Department, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
  • Giuseppe Visconti Centre for Surgical Treatment of Lymphedema, Plastic Surgery Department, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
  • Stefano Gentileschi Centre for Surgical Treatment of Lymphedema, Plastic Surgery Department, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
  • Giulia Guerri MAGI’s Lab, Rovereto (TN), Italy
  • Lucilla Gagliardi UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Barbara Aquilanti UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Giuseppina Matera UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Valeria Velluti UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Giacinto Abele Donato Miggiano UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Centro di Ricerche in Nutrizione Umana, Università Cattolica Sacro Cuore, Rome, Italy
  • Karen L. Herbst Department of Medicine, University of Arizona, Tucson, Arizona
  • Matteo Bertelli MAGI Euregio, Bolzano, Italy

Keywords:

Lipedema, Dercum disease, lipomatosis

Abstract

Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis. Disorders belonging to this spectrum are lipedema, generalized diffuse or nodular forms of Dercum disease, localized nodular Dercum disease and multiple symmetric lipomatosis. Here we summarize the genes involved in syndromes with localized accumulation of subcutaneous fat and the test we use for genetic analysis.

Downloads

Published

30-09-2019

How to Cite

1.
Precone V, Barati S, Paolacci S, et al. Genetic syndromes with localized subcutaneous fat tissue accumulation. Acta Biomed. 2019;90(10-S):90-92. doi:10.23750/abm.v90i10-S.8767