Browsing by Author "Mata, N.P."
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- Molecular aspects of Homozygous Familial Hypercholesterolemia in Iberoamerican CountriesPublication . Alves, A.C.; Alonso, R.; Cuevas, A.; Medeiros, A.M.; Pereira, A.C.; Jannes, C.E.; Krieger, J.E.; Arroyo, R.; Schreier, L.; Corral, P.; Bañares, V.; Araujo, G.M.; Asenjo, S.; Stoll, M.; Dell'Oca, N.; Reyes, X.; Ressia, A.; Campo, R.; Merchan, A.; Magaña-Torres Teresa, M.; Vasques-Cardenas, A.; Mata, N.P.; Santos, R.D.; Bourbon, M.Homozygous Familial Hypercholesterolemia (HoFH) is a rare disorder, affecting 1 in 300,000 to 1,000,000 people in the general population. The Iberoamerican FH (IBAFH) network was constituted in 2013 with the main objectives to promote awareness and education on FH, and to improve and promote early diagnosis and treatment of the disorder in the network countries. In 2018, there are 8 countries (Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain and Uruguay) belonging to the network representing 75% of region’s population. It is estimated that there are 600 to 1,800 HoFH in the Ibero-America, most of them not diagnosed and/or not treated adequately. The Iberoamerican community has an estimated population of 640 million inhabitants. The objective of this work is to describe molecular characteristics of HoFH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.