BSCL2-Associated Congenital Generalized Lipodystrophy: Real-World Data on Phenotype, Genotype, and Therapeutic Management
Abstract
Abstract Context: Congenital generalized lipodystrophy type 2 (CGL2) is characterized by a near-total deficiency of functional adipose tissue, resulting in profound metabolic derangements and significant morphological alterations. Objective This study aimed to expand understanding and clinical management of CGL2 through a systematic reporting its clinical features, laboratory findings, genetic mutations, and treatment outcomes. Methods This retrospective study characterized five patients with biallelic BSCL2 mutations, encompassing detailed data on facial dysmorphism, hepatosplenomegaly, metabolic profiles, genetic variants, therapeutic interventions, and longitudinal outcomes. Results This study comprised five patients (four males and one female) with a median age at diagnosis of five months (range: 3–10 months). All patients exhibited early-onset facial dysmorphism, hypertriglyceridemia, and cognitive impairment. Additionally, some patients developed hepatic dysfunction and insulin resistance. One patient with homozygous c.974dupG mutation was accompanied by severe neurological phenotypes. Management included a specialized low-fat diet enriched with medium-chain triglycerides and L-carnitine supplementation, with metformin and bezafibrate administered in selected cases. Following treatment, triglyceride levels and other metabolic parameters were effectively controlled in all patients. Conclusions In this descriptive case series study including five patients with CGL2, we…
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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