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Physiologically speaking, it refers to multi-organ compromise secondary to poor metabolism in the body.

It is an interrelated constellation of risk factors of metabolic origin, which appear and directly promote the development of atherosclerotic cardiovascular disease, secondary kidney disease, cerebrovascular compromise, among others.

Target: Can occur at any age

What is it?

Homozygous familial hypercholesterolemia (HoFH) is a rare hereditary disease, characterized by an excess of surrounding LDL lipids in the blood (up to six times more than normal). Given its accumulation in the walls of the vessels, various implications are presented at the cardiovascular level which can be life-threatening. These patients suffer from atherosclerotic disease from very early ages, which leads to the presentation of acute myocardial infarction (AMI), cerebrovascular accident (CVA) or sudden death. (1.2)

Which are the symptoms?

Taking into account the high levels of circulating lipids in the blood, these usually appear as deposits in different parts of the body, being evident, for example, in the skin and tendons called cutaneous xanthomas, around the eyelid called xanthelasmas, or deposits in the cornea known as arcus corneal. (1.2)

What to take into account?

Given the cardiovascular implications described, patients benefit from an early and timely diagnosis in order to initiate changes in lifestyle (adjustment in diet and physical activity) accompanied by pharmacological management that lowers blood lipid levels, as deemed appropriate. the treating physician. It should be noted that the diagnosis is clinical, based on the patient’s signs and symptoms, as well as the history and family history. (1.2)


  • Merchán A, Ruiz AJ, Campo R, Prada CE, Toro JM, Sánchez R, et al. Hipercolesterolemia familiar: artículo de revisón. Rev Colomb Cardiol. 2016;23(4):4–26.
  • Ascaso JF, Mata P, Arbona C, Civiera F, Valdivielso P y Masana L. Hipercolesterolemia familiar homocigota: adaptación a España del documento de posición del grupo de consenso sobre hipercolesterolemia familiar de la Sociedad Europea de Arteriosclerosis. Documento de Consenso de la Sociedad Española de Arteriosclerosis (SEA) y la Fundación Hipercolesterolemia Familiar (FHF). Clin Invest Arterioscl. 2015;27(2):80—96.