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.
