Publicado
Uso de metformina y un inhibidor de SGLT2 en el manejo de lipodistrofia congénita generalizada. Reporte de caso
Use of metformin and an SGLT2 inhibitor to treat congenital generalized lipodystrophy. Case report
DOI:
https://doi.org/10.15446/revfacmed.v68n4.77325Palabras clave:
Lipodistrofia, Lipodistrofia congénita generalizada, Resistencia a la insulina, Diabetes mellitus, Hígado graso. (es)Lipodystrophy, Congenital Generalized Lipodystrophy, Insulin Resistance, Diabetes Mellitus, Hypertriglyceridemia, Fatty Liver. (en)
Introducción. La lipodistrofia congénita generalizada (LCG) es un síndrome genético autosómico recesivo extremadamente raro que se caracteriza por ausencia generalizada de tejido adiposo, deficiencia en la producción de hormonas como la leptina y complicaciones metabólicas potencialmente serias como diabetes mellitus tipo 2 (DM2), esteatohepatitis e hipertrigliceridemia.
Presentación del caso. Paciente femenina de 17 años con un diagnóstico tardío de LCG y con diabetes mellitus (erróneamente clasificada como tipo I), hipertrigliceridemia severa e infecciones a repetición. Luego de introducir metformina y un inhibidor del SGLT2 en el manejo de la paciente, se logró un adecuado control metabólico.
Conclusión. Con frecuencia, el desconocimiento de algunas enfermedades huérfanas lleva a diagnósticos erróneos y, por tanto, a tratamientos inadecuados que en algunos casos pueden empeorar la condición clínica de los pacientes. Por lo anterior, en el caso de la LCG, es necesario que la comunidad médica tenga una mejor comprensión de sus aspectos diagnósticos y terapéuticos para brindar un diagnóstico y tratamiento oportunos.
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.
Referencias
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101(12):4500-11. https://doi.org/d92z.
Vatier C, Vantyghem MC, Storey C, Jéru I, Christin-Maitre S, Fève B, et al. Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. Curr Med Res Opin. 2018;35(5):543-52. https://doi.org/d922.
Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31(1):21-3. https://doi.org/c2wnz9.
Van Maldergem L. Berardinelli-Seip Congenital Lipodystrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews®. Seattle: University of Washington, Seattle; 1993-2019 [cited 2020 Sep 24]. Available from: https://bit.ly/3cuJQd2.
Samuel VT, Shulman GI. Mechanisms for insulin resistance: common threads and missing links. Cell. 2012;148(5):852-71. https://doi.org/ggj5qg.
Unger RH. Lipotoxic diseases. Annu Rev. 2002;53(1):319-36. https://doi.org/cbzp89.
Petta S, Gastaldelli A, Rebelos E, Bugianesi E, Messa P, Miele L, et al. Pathophysiology of Non Alcoholic Fatty Liver Disease. Int J Mol Sci. 2016;17(12):2082. https://doi.org/gg62vv.
Chao HW, Chao SW, Lin H, Ku HC, Cheng CF. Homeostasis of Glucose and Lipid in Non-Alcoholic Fatty Liver Disease. Int J Mol Sci. 2019;20(2):298. https://doi.org/d926.
Machado PV, Rodrigues-Daxbacher EL, Obadia DL, Cunha EF, Alves Mde F, Mann D. Do you know this syndrome? Berardinelli-Seip syndrome. An Bras Dermatol. 2013;88(6):1011-3. https://doi.org/gcbt8j.
Simha V, Garg A. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009;20(4):300-8. https://doi.org/c4bnk5.
Gutiérrez-Restrepo J, Muñoz-Ortiz É, Arango-Toro MC, Vásquez-Mejía EM, Montoya-Escobar JF, Villa-Franco JP. Pancreatitis aguda inducida por hipertrigliceridemia y tratamiento con plasmaféresis : reporte de un caso. Iatreia. 2012;25(4):391-7.
Kimura W, Mössner J. Role of Hypertriglyceridemia in the Pathogenesis of Experimental Acute Pancreatitis in Rats. Int J Pancreatol. 1996;20(3):177-84. https://doi.org/cq3bp8.
Argente J, Chowen JA. Nuevas funciones neuroendocrinas de la leptina. Rev Esp Endocrinol Pediatr. 2014;5(Suppl 1):43-52. https://doi.org/d93n.
Quennell JH, Mulligan AC, Tups A, Liu X, Phipps SJ, Kemp CJ, et al. Leptin indirectly regulates gonadotropin-releasing hormone neuronal function. Endocrinology. 2009;150(6):2805-12. https://doi.org/bw6fvd.
Ruíz-Mejía AF, Mockus-Sivickas I. Conceptos actuales sobre mecanismos reguladores de la pubertad. Rev Fac Med. 2012;60(1):50-9.
Münzberg H, Morrison CD. Structure, production and signaling of leptin. Metabolism. 2015;64(1):13-23. https://doi.org/f6vrhx.
Maurya R, Bhattacharya P, Dey R, Nakhasi HL. Leptin Functions in Infectious Diseases. Front Immunol. 2018;9:2741. https://doi.org/gfrqwr.
Francisco V, Pino J, Campos-Cabaleiro V, Ruiz-Fernández C, Mera A, Gonzalez-Gay MA, et al. Obesity, Fat Mass and Immune System: Role for Leptin. Front Physiol. 2018;9:640. https://doi.org/gdqkq2.
Bruno A, Conus S, Schmid I, Simon HU. Apoptotic pathways are inhibited by leptin receptor activation in neutrophils. J Immunol. 2005;174(12):8090-6. https://doi.org/d935
Gerriets VA, Danzaki K, Kishton RJ, Eisner W, Nichols AG, Saucillo DC, et al. Leptin directly promotes T-cell glycolytic metabolism to drive effector T-cell differentiation in a mouse model of autoimmunity. Eur J Immunol. 2016;46(8):1970-83. https://doi.org/f3qfxz.
Gregory JM, Arkader A, Bothari A, Dormans JP. Case report: Unicameral bone cysts in a young patient with acquired generalized Lipodystrophy. Clin Orthop Relat Res. 2010;468(5):1440-6. https://doi.org/b4rn9f
Rena G, Pearson ER, Sakamoto K. Molecular mechanism of action of metformin: old or new insights. Diabetologia. 2013;56(9):1898-906. https://doi.org/f46mtd.
Cheema HA, Malik HS, Waheed N, Mushtaq I, Fayyaz Z, Anjum MN. Berardinelli-Seip Congenital Generalised Lipodystrophy. J Coll Physicians Surg Pak. 2018;28(5):406-8. https://doi.org/d939.
Fujita Y, Inagaki N. Renal sodium glucose cotransporter 2 inhibitors as a novel therapeutic approach to treatment of type 2 diabetes: Clinical data and mechanism of action. J Diabetes Investig. 2014;5(3):265-75. https://doi.org/d94b.
D’souza AM, Neumann UH, Glavas MM, Kieffer TJ. The glucoregulatory actions of leptin. Mol Metab. 2017;6(9):1052-65. https://doi.org/gbx7q9.
Dimensions
PlumX
Visitas a la página del resumen del artículo
Descargas
Cómo citar
Licencia
Derechos de autor 2020 Revista de la Facultad de Medicina
Esta obra está bajo una licencia Creative Commons Reconocimiento 3.0 Unported.
-
