Nidhi Gupta1,2, Noor Asi1, Wigdan Farah1, Jehad Almasri1, Patricia Barrionuevo1, Mouaz Alsawas1, Zhen Wang1, Morey W Haymond3, Rebecca J Brown4, M Hassan Murad1. 1. Evidence-Based Practice Center and. 2. Division of Pediatric Endocrinology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905. 3. Department of Pediatrics, Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas 77030; and. 4. Diabetes, Endocrinology and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.
Abstract
CONTEXT: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. OBJECTIVE: We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years). DATA SOURCE: Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. STUDY SELECTION: Search terms included lipodystrophy, and age 0 to 18 years. Patients with unambiguous diagnosis of lipodystrophy were included. Lipodystrophy secondary to HIV treatment was excluded. DATA SYNTHESIS: We identified 1141 patients from 351 studies. Generalized fat loss involving face, neck, abdomen, thorax, and upper and lower limbs was explicitly reported in 65% to 93% of patients with congenital generalized lipodystrophy (CGL) and acquired generalized lipodystrophy (AGL). In familial partial lipodystrophy (FPL), fat loss occurred from upper and lower limbs, with sparing of face and neck. In acquired partial lipodystrophy (APL), upper limbs were involved while lower limbs were spared. Other features were prominent musculature, acromegaloid, acanthosis nigricans and hepatosplenomegaly. Diabetes mellitus was diagnosed in 48% (n = 222) of patients with CGL (mean age at onset, 5.3 years). Hypertriglyceridemia was observed in CGL, AGL and FPL. Multiple interventions were used, with most patients receiving ≥ 3 interventions and being ≥ 18 years of age at the initiation of interventions. CONCLUSIONS: To our knowledge, this is the largest reported pooled database describing lipodystrophy patients with age at onset < 18 years. We have suggested core and supportive clinical features and summarized data on available interventions, outcomes and mortality.
CONTEXT: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. OBJECTIVE: We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years). DATA SOURCE: Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. STUDY SELECTION: Search terms included lipodystrophy, and age 0 to 18 years. Patients with unambiguous diagnosis of lipodystrophy were included. Lipodystrophy secondary to HIV treatment was excluded. DATA SYNTHESIS: We identified 1141 patients from 351 studies. Generalized fat loss involving face, neck, abdomen, thorax, and upper and lower limbs was explicitly reported in 65% to 93% of patients with congenital generalized lipodystrophy (CGL) and acquired generalized lipodystrophy (AGL). In familial partial lipodystrophy (FPL), fat loss occurred from upper and lower limbs, with sparing of face and neck. In acquired partial lipodystrophy (APL), upper limbs were involved while lower limbs were spared. Other features were prominent musculature, acromegaloid, acanthosis nigricans and hepatosplenomegaly. Diabetes mellitus was diagnosed in 48% (n = 222) of patients with CGL (mean age at onset, 5.3 years). Hypertriglyceridemia was observed in CGL, AGL and FPL. Multiple interventions were used, with most patients receiving ≥ 3 interventions and being ≥ 18 years of age at the initiation of interventions. CONCLUSIONS: To our knowledge, this is the largest reported pooled database describing lipodystrophy patients with age at onset < 18 years. We have suggested core and supportive clinical features and summarized data on available interventions, outcomes and mortality.
Authors: Savitha Shastry; Mauricio R Delgado; Eray Dirik; Mehmet Turkmen; Anil K Agarwal; Abhimanyu Garg Journal: Am J Med Genet A Date: 2010-09 Impact factor: 2.802
Authors: C A Kim; Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O'Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magré Journal: J Clin Endocrinol Metab Date: 2008-01-22 Impact factor: 5.958
Authors: Gunjan Y Gandhi; M Hassan Murad; Akira Fujiyoshi; Rebecca J Mullan; David N Flynn; Mohamed B Elamin; Brian A Swiglo; William L Isley; Gordon H Guyatt; Victor M Montori Journal: JAMA Date: 2008-06-04 Impact factor: 56.272
Authors: Namburi R Prasad; Ponnala A Reddy; Bindu Menon; T S Karthik; Faizal Ahmed; Mithun Chakravarthy Journal: Indian J Endocrinol Metab Date: 2012-12
Authors: Josivan Gomes Lima; Lucia Helena C Nobrega; Natalia Nobrega Lima; Marcel Catão Ferreira Dos Santos; Pedro Henrique Dantas Silva; Maria de Fatima P Baracho; Debora Nobrega Lima; Julliane Tamara Araújo de Melo Campos; Leonardo Capistrano Ferreira; Francisco Paulo Freire Neto; Carolina de O Mendes-Aguiar; Selma Maria B Jeronimo Journal: PLoS One Date: 2018-06-08 Impact factor: 3.240