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Genetic syndromes with localized subcutaneous fat tissue accumulation.

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.

SUBMITTER: Precone V

PROVIDER: S-EPMC7233643 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Genetic syndromes with localized subcutaneous fat tissue accumulation.

Precone Vincenza V Barati Shila S Paolacci Stefano S Salgarello Marzia M Visconti Giuseppe G Gentileschi Stefano S Guerri Giulia G Gagliardi Lucilla L Aquilanti Barbara B Matera Giuseppina G Velluti Valeria V Miggiano Giacinto Abele Donato GAD Herbst Karen L. KL Bertelli Matteo M

Acta bio-medica : Atenei Parmensis 20190930 10-S

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 ...[more]

PMID: 31577262

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Project description:BackgroundRace and sex differences in adolescents' body fat are demonstrated in cross-sectional cohorts, yet a longitudinal design would better identify patterns of fat distribution over time.ObjectivesThe aim was to examine race and sex differences in adiposity between black and white adolescents over 2 y.MethodsA cohort of adolescents aged 10-16 y (38% black; 52% girls; 15% overweight, 34% with obesity) underwent body composition measurements at baseline (n = 309) and 2 y later (n = 236), using DXA to quantify whole-body fat mass (FM) and MRI for abdominal subcutaneous (SAT) and visceral adipose tissue (VAT) volumes. General linear models were used to examine race and sex differences in log-transformed FM, SAT, and VAT, adjusting for age, sexual maturation, extended BMI percentile, and race-by-sex interaction. SAT and VAT models in addition controlled for baseline FM and change in FM (for change models).ResultsMean (95% CI) baseline FM (kg) was higher among white [18.5 (17.9, 19.2) than among black adolescents [17.4 (16.6, 18.2), P = 0.03] and girls [19.5 (18.8, 20.3) than boys [16.5 (15.8, 17.2), P < 0.0001]. Mean (95% CI) baseline SAT (L) was higher among girls [4.4 (4.2, 4.6)] than among boys [3.9 (3.7, 4.1), P < 0.0001]. Mean (95% CI) baseline VAT (L) was higher among white [0.5 (0.5, 0.6)] than among black [0.3 (0.3, 0.4)] adolescents (P < 0.0001) and boys [0.5 (0.4, 0.5)] than girls [0.4 (0.4, 0.4), P = 0.04]. Over 2 y mean (95% CI) FM change (kg) was higher among white [3.7 (2.9, 4.5)] than among black adolescents [2.3 (1.3, 3.3), P = 0.04] and girls [4.0 (3.0, 4.9)] than boys [2.0 (1.1, 3.0), P = 0.007], but SAT change (L) did not differ by race or sex. VAT change (L) was higher among white [0.1 (0.1, 0.1)] than among black adolescents [0.0 (0.0, 0.1), P = 0.003] and boys [0.1 (0.1, 0.1)] than girls [0.0 (0.0, 0.1), P = 0.034].ConclusionsSex and race differences in the deposition and accumulation of excess fat are important considerations for understanding obesity prevalence and obesity-related disease risk among adolescents.This trial was registered at clinicaltrials.gov as NCT02784509.

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Genetic syndromes with localized subcutaneous fat tissue accumulation.

Publications

Genetic syndromes with localized subcutaneous fat tissue accumulation.

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