Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

By A. Goldberg, P. Hopkins, P. Toth, Christie M. Ballantyne, D. Rader, Jennifer G. Robinson, S. Daniels, S. Gidding, S. D. de Ferranti, Matthew K. Ito and 5 more. Journal of Clinical Lipidology, 2011

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Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Severe Hypercholesterolemia (2016, background): “Such knowledge may inform the design and effectiveness of universal FH screening proposals (17,18).”
The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. (2015, background): “FH screening should also be offered to all patients with tendon xanthomata and premature arcus cornealis.(2,12,114,125) Clinical laboratory reporting thresholds can be used to alert primary/secondary care physicians about FH on the basis of a highly raised plasma LDL-C in the FH range.”
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease (2013, methodology): “Cascade screening using the protocol outlined in Table 2 has been found to be feasible and acceptable to subjects with FH and to physicians.(8,26,35) To be maximally cost-effective, cascade screening should be systematic, centrally co-ordinated in a specialized centre and carried out using a combina”
Familial hypercholesterolemia (2011, positive): “suggested by recent guidelines (6,17), children and”