Clinical characteristics of patients with acquired partial lipodystrophy: a multicenter retrospective study.

BACKGROUND: Barraquer-Simons syndrome (BSS) is a rare acquired form of lipodystrophy characterized by progressive loss of upper body subcutaneous fat, which affects face, upper limbs, and trunk. The pathogenesis of the disease is not entirely known and may involve autoimmune mechanisms.

AIM: This study aimed to provide a comprehensive picture of the clinical, immunological, and metabolic features of a large cohort of BSS patients. Our primary objectives included the validation of existing diagnostic tools, the evaluation of novel diagnostic approaches, and the exploration of potential disease triggers or genetic predispositions.

SUBJECTS AND METHODS: Twenty-six patients were diagnosed with BSS based on accepted criteria defined by international guidelines. Anthropometric parameters, biochemical tests, organ- and non-organ-specific autoantibodies, HLA status, and screening of the LMNB2 gene were performed.

RESULTS: Patients were predominantly females (73%); fat loss occurred mostly during childhood (77%) at a median age of 8 years. Among various anthropometric measures, the ratio between the proportion of fat mass in upper limbs/lower limbs showed the best predictive value for diagnosis. 11.5% of patients had diabetes, 34.6% dyslipidemia, and 26.9% hepatic steatosis. 75% of children and 50% of adults had C3 hypocomplementemia; 76% of patients were positive for one or more autoantibodies. HLA-DRB1 11:03 had higher allelic frequencies compared to the general population. A single variant in the LMNB2 gene was found in one patient.

CONCLUSIONS: BSS has a childhood onset and is often associated with autoimmune diseases. Skinfold thickness measurements and fat assessment by DEXA are useful tools to identify the disease. C3 hypocomplementemia and the presence of autoantibodies may be used as additional diagnostic supportive criteria but prevalence of C3 hypocomplementemia may be lower than previously reported.