The clinical examination should focus on typical clinical manifestations of FH. It should be noted that the current incidence of tendinous xanthomas has been considerably modified by statin therapy, and patients do not present with them nearly as often as in the past. Nonetheless, tendinous xanthomas are very typical signs of FH, and given that they do not present in patients with similar LDL-C levels linked to other causes (e.g. hypothyroidism), they are diagnostic for FH. Keep in mind that xanthomas may also occur in the rare sitosterolemia disorder.
Xanthomas occur on hand extensor tendons as well as on the Achilles tendon. Patients commonly present with inflammation of the tendon, and an Achilles tendon rupture is not uncommon.
Arcus lipoides (arcus senilis) corneae is a benign affection that is quite commonly found in older patients. If, however, it is found prior to 45 years of age, it is an indication to begin an FH investigation.
Xanthelasma palpebrarum is not universally considered to be a typical manifestation of FH. Indeed, not only do numerous patients with xanthelasma not have FH – many have a completely normal lipid metabolism. Nevertheless, I still believe that the presence of xanthelasma palpebrarum warrants consideration of FH.