| • Hyper-LDL-cholesterolemia (an untreated LDL-C level ≥ 180 mg/dL) |
| • Tendon xanthomas (thickening of tendons on dorsal side of the hands, elbows, knees or Achilles tendon hypertrophy) or xanthoma tuberosum |
| • Family history of FH or premature CAD (within the patient's second-degree relatives) |
|
| • The diagnosis should be made after excluding secondary dyslipidemia. |
| • If a patient meets two or more of the above-mentioned criteria, the condition should be diagnosed as FH. In case of suspected heterozygous FH, making a diagnosis using genetic testing is desirable. |
| • Xanthelasma is not included in xanthoma tuberosum. |
| • Achilles tendon hypertrophy is diagnosed if the Achilles tendon thickness is ≥ 9 mm on X-ray imaging. (See Appendix) |
| • An LDL-C level of ≥ 250 mg/dL strongly suggests FH. |
| • If a patient is already receiving drug therapy, the lipid level before treatment should be used as the reference for diagnosis. |
| • Premature CAD is defined as the occurrence of CAD in men < 55 years of age or women < 65 years of age, respectively. |
| • If FH is diagnosed, it is preferable to also examine the patient's family members. |
| • These diagnostic criteria also apply to HoFH. |
