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Revista de la Facultad de Medicina
Print version ISSN 0120-0011
Abstract
RINCON, Erika Andrea; GOMEZ, Juan Esteban and PACHAJOA, Harry Mauricio. Clinical and molecular characterization in homozygous familial hypercholesterolemia. rev.fac.med. [online]. 2018, vol.66, n.3, pp.505-508. ISSN 0120-0011. https://doi.org/10.15446/revfacmed.v66n3.63503.
Introduction:
Homozygous familial hypercholesterolemia is a rare genetic disorder characterized by very high cholesterol levels and poor response to conventional pharmacological treatment (statins, ezetimibe). Molecular study is an important resource that may have a positive impact on the treatment and prognosis of these patients; however, this type of study is not always available in all care centers. The results of these genetic tests allow identifying patients who can benefit from new therapeutic options associated with a higher decrease of total and LDL cholesterol.
Case presentation:
This paper presents the cases of two sisters with severe hypercholesterolemia and poor response to conventional pharmacological treatment, in whom molecular diagnosis confirmed a homozygosis mutation in the low density lipoprotein receptor gene. Based on these results, in both cases, a selective microsomal triglyceride transfer protein inhibitor was added to conventional lipid-lowering therapy, which resulted in a decrease of serum levels in total and LDL cholesterol by more than 49%.
Conclusion:
Molecular tests are an important tool to define the diagnosis, prognosis and treatment of patients with homozygous familial hypercholesterolemia.
Keywords : Hypercholesterolemia; Cholesterol; Mutation (MeSH).