Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue, usually associated with insulin resistance-related conditions.
We conducted a systematic review to synthesize existing 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.
Search terms included, but were not limited to ‘lipodystrophy’, and age 0-18 years. Articles that described patients with unambiguous diagnoses of lipodystrophy were included. Since some case series included patients across all ages, some patients > 18 years at reporting, with onset of lipodystrophy at < 18 years were captured. Lipodystrophy secondary to HIV treatment and systemic diseases was excluded. DATA EXTRACTION
Data was extracted in duplicate using a standardized web-based data extraction form.
We identified 1,141 patients from 351 studies [mean age at reporting 15.4 ± 14.0 years (range, 0.01-76.5); reporting age < 18 years, n = 744; ≥ 18 years, n = 397]. Onset of fat loss typically occurred during infancy in congenital generalized lipodystrophy (CGL) and later in acquired generalized (AGL), familial partial (FPL) and acquired partial (APL) lipodystrophies. Generalized fat loss involving face, neck, abdomen, thorax, upper and lower limbs was explicitly reported in 65-93% patients with CGL and AGL. As expected from clinical definitions, in FPL, fat loss occurred from upper and lower limbs, with sparing of face and neck. In 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 dietary and pharmacological interventions were used with majority of patients being on ≥ 3 interventions and ≥ 18 years of age at time of initiation of intervention. Metreleptin and diet over a mean duration of 29 months lowered serum insulin and triglycerides in CGL. CONCLUSIONS
This is the largest reported pooled database describing lipodystrophy patients with age at onset < 18 years. We have suggested core and supportive clinical features of lipodystrophy and summarized data on available interventions, outcomes and mortality.