Familial hypercholesterolemia (HF) is a genetic disease caused by mutations in different genes. Among them, the LDLR gene is the most frequent associate, since it is responsible for approximately 90% of the cases. More than 1,700 mutations have been described at this global level, but in Colombia isn´t the information that is available about it. On the other hand, there is no information on the nutritional status of individuals diagnosed with FH in our country. This study focused on the analysis of a family with autosomal dominant familial hypercholesterolemia. On the one hand, it is intended to perform the molecular diagnosis of the family by means of the mutational analysis of the LDLR gene, and the nutritional diagnosis of the same family through a complete nutritional assessment. Additionally, a complete review of the literature on the nutritional management of familial hypercholesterolemia was carried out in order to develop a cell phone application that helps individuals affected by health complications. Five families with a clinical diagnosis of familial hypercholesterolemia were analyzed and two pathogenic variants were identified in two different families. The first variant was identified in 2 members of the family in which their nutritional status wasn´t the most appropriate. The second variant was identified in the three affected members of another family.