Intractable Rare Dis Res. 2020;9(1):58-60. (DOI: 10.5582/irdr.2020.01004)
High prevalence of congenital generalized lipodystrophy in Piura, Peru
Purizaca-Rosillo N, Benites-Cóndor Y, Abarca H, Del Águila C, Chávez M, Franco L, Olea R, Rejas J, Martinez L, Chavesta F, Gamarra J, Arámbulo S, Ávila A
Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017. A descriptive, observational study was carried out. A search of clinical histories of patients with the diagnosis of CGL attended between 2000 and 2017 in the pediatric and endocrinology services of the reference hospitals of the department of Piura and in the genetic and endocrinology services of the "Instituto Nacional de Salud del NiÃ±o". A patient was considered to have CGL if they met the clinical criteria and or if they had a molecular diagnosis, in addition to patients with CGL from the department of Piura reported in previous publications. A total of 23 cases of CGL were found in Piura, the highest prevalence was in 2014 with 1.2 per 100,000 people, and by 2017 the prevalence was 0.86 per 100,000 people. In conclusion, the department of Piura has a high prevalence of CGL.