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Revista de la Facultad de Medicina
Print version ISSN 0120-0011
Abstract
GONZALEZ-CLAVIJO, Angélica María et al. Use of metformin and an SGLT2 inhibitor to treat congenital generalized lipodystrophy. Case report. rev.fac.med. [online]. 2020, vol.68, n.4, pp.639-643. Epub Jan 16, 2021. ISSN 0120-0011. https://doi.org/10.15446/revfacmed.v68n4.77325.
Introduction:
Generalized congenital lipodystrophy (GDL) is an extremely rare autosomal recessive genetic syndrome characterized by generalized absence of adipose tissue, deficient production of hormones such as leptin, and potentially serious metabolic complications such as type 2 diabetes mellitus (DM2), steatohepatitis and hypertriglyceridemia.
Case presentation:
This is the case of a 17-year-old female patient with a late diagnosis of GDL and with diabetes mellitus (erroneously classified as type 1), severe hypertriglyceridemia and recurrent infections. Adequate metabolic control was achieved after the introduction of metformin and an SGLT2 inhibitor.
Conclusion:
Lack of knowledge about some orphan diseases usually leads to misdiagnosis and, therefore, to inadequate treatments that may worsen the clinical condition of patients. Therefore, in the case of GDL, the medical community should have a better understanding of its diagnostic and therapeutic aspects in order to provide timely diagnosis and treatment.
Keywords : Lipodystrophy; Congenital Generalized Lipodystrophy; Insulin Resistance; Diabetes Mellitus; Hypertriglyceridemia; Fatty Liver (MeSH).