Table 17. Diagnostic criteria of FCHL.

Criteria (1) Familial combined hyperlipidemia is associated primarily with phenotype Ⅱb and possibly with phenotypes Ⅱa or Ⅳ (2) An apoprotein B/LDL-C ratio of > 1.0 or the presence of small dense LDL (particle size < 25.5 nm) should be established. (3) Secondary hyperlipidemia, such as familial hypercholesterolemia or diabetes mellitus, should be excluded. (4) One or more of the first-degree relatives have phenotype Ⅱb, Ⅱa or Ⅳ hyperlipidemia and at least one of such relatives, including the patient himself/herself, has phenotype Ⅱb or Ⅱa.

Diagnosis The diagnosis is confirmed if all of the above criteria ((1) to (4)) are met. However, in daily practice, a diagnosis may simply be made if criteria (1) to (3) are met.

(Cited from the 2000 report of the Research Committee for Primary Hyperlipidemia, Research on Measures Against Intractable Diseases established by the Japanese Ministry of Health, Labour and Welfare)