DYSLIPIDEMIA IN MEXICO, A CALL FOR ACTION.

The purpose of this manuscript is to highlight the peculiarities of the Mexican population regarding the clinical expression, genetics, and treatment of lipid disorders. Furthermore, it is a call for action to address the existing gaps in care and research of dyslipidemias. The Mexican Mestizos are highly susceptible to metabolic disorders (i.e., low high-density lipoprotein cholesterol concentrations, hypertriglyceridemia, abdominal obesity, and type 2 diabetes); these conditions are associated with ethnic-specific genetic variants. On the other hand, despite the high prevalence of dyslipidemia in Mexican adults, there is a lack of awareness of these conditions. The public is not informed about the need for screening and the potential benefit of the lipid-lowering treatments. Underdiagnosis and undertreatment are two of the main challenges to be solved. Dyslipidemias are not among the priorities of the health systems for the prevention of cardiovascular disease; access to laboratory resources and medications is insufficient in primary care units despite the proven cost-benefit of the treatment of lipid disorders. Evidence-based public policies are needed to change the practice and allocation of assets to be capable of preventing cardiovascular diseases. Treatment of dyslipidemia should have a prominent role in any effort to decrease the number of preventable deaths caused by non-communicable diseases.

Diabetes mellitus and optic atrophy: study of the Wolfram syndrome / Diabetes mellitus y atrofia óptica: estudio del síndrome de Wolfram

Background: Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. Objective: To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. Materials and Methods: We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Results: Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. Conclusions: This study shows the variability of clinical presentation of WS, as well as two new associations.

Antecedentes: El síndrome de Wolfram (SW), también conocido por el acrónimo DIDMOAD, es una enfermedad hereditaria rara y progresiva, de transmisión autosómica recesiva, cuyos criterios diagnósticos mínimos son diabetes mellitus y atrofia óptica antes de los 15 años de edad. Objetivo: Describir la presentación clínica, bioquímica y molecular del SW en un hospital de tercer nivel en México. Material y Métodos: Se revisaron los expedientes de pacientes que cumplían con criterios diagnósticos clínicos mínimos de SW atendidos entre enero de 1987 y mayo de 2015 en un hospital de tercer nivel en México. Resultados: Cinco pacientes cumplieron con los criterios de inclusión (tres hombres y dos mujeres). La diabetes mellitus fue la primera manifestación del síndrome en todos ellos, con una media de edad al diagnóstico de 5.8 ± 2.71 años, mientras que el diagnóstico del SW se estableció en promedio a los 15.8 ± 8.37 años. Todos los pacientes tenían atrofia óptica y dos presentaron el espectro DIDMOAD completo. Se describen nuevas asociaciones con hepatitis autoinmunitaria y cáncer de testículo. Conclusiones: El presente estudio muestra la variabilidad de presentación clínica del SW y dos asociaciones no descritas previamente.