Familial Autosomal Recessive Hypercholesterolemia (LDLRAP1)

Familial autosomal recessive hypercholesterolemia is caused by pathogenic variants in the LDLRAP1 gene. Although it is diagnosed in individuals worldwide, an increased prevalence of the disease occurs in the Sardinian population due to the presence of a founder mutation. Age of onset is in childhood or adolescence. The disease is characterized by high levels of cholesterol in the bloodstream and cholesterol deposits on the tendons (xanthomas). Due to the high levels of cholesterol, hardening of the arteries can occur at a young age and most patients have coronary artery disease by middle age, which can lead to premature death. To date, no genotype-phenotype correlation is known.

For information about carrier frequency and residual risk, please see the residual risk table.