Clinical And Metabolic Features Of Non Hiv Related In Patients With Age At Onset Of Lipodystrophy < 18

1425 Words Sep 2nd, 2016 6 Pages
We conducted a systematic review to summarize existing data on clinical and metabolic features of non-HIV related lipodystrophy in patients with age at onset of lipodystrophy < 18 years. This in-depth review of 1,141 patients with lipodystrophy is the largest pooled pediatric database, so far reported in literature. We have suggested core and supportive clinical features of four major lipodystrophies (CGL, AGL, FPL and APL) to help clinicians in diagnosis and management decisions (Figure 3).
Congenital generalized lipodystrophy is a rare autosomal recessive disorder (38). Several CGL loci have been previously identified, AGPAT2 (CGL type 1), BSCL2 (CGL type 2), CAV1, and PTRF (CGL type 4), with the first two accounting for about 95% of reported patients (39-43). These mutations alter gene activation and signaling pathways in differentiation of mesenchymal stem cells into adipocytes (44,45), resulting in loss of subcutaneous adipose tissue. Leptin, which is an adipocyte-derived hormone and promotes satiety, is deficient in lipodystrophy patients (10). Leptin deficiency leads to hyperphagia and in the absence of subcutaneous adipose tissue, the excess calories are stored as triglycerides in ectopic sites such as liver and muscles, resulting in hepatomegaly, transaminitis and severe insulin resistance (13). Patients with generalized lipodystrophy have been reported to have significantly reduced fertility, as a direct result of leptin deficiency and indirect result of severe…

More about Clinical And Metabolic Features Of Non Hiv Related In Patients With Age At Onset Of Lipodystrophy < 18

Open Document