Hypercholesterolemia: Test and Diagnosis

1st-order laboratory parameters-obligatory laboratory tests.

Laboratory parameters 2nd order – depending on the results of the history, physical examination, etc. – for differential diagnostic clarification.

  • Cholesterol electrophoresis
  • Apolipoprotein E
  • Apolipoprotein A1 (apo A1; APOA1) – risk assessment for the development of atherosclerosis (atherosclerosis, hardening of the arteries).
  • Apolipoprotein B (apo B; APOB) – risk assessment for the development of atherosclerosis APO B decreased in:
    • Lipoprotein deficiency, hyperlipoproteinemia type I.

    APO B elevated in:

    • Hyperlipoproteinemias type II, III, V, pAVK, myocardial infarction (heart attack).
  • Lipoprotein (a) [determination at least once in adulthood to identify patients who have high Lp(a) concentrations > 180 mg/dl (>430 nmol/l), who are at lifetime risk for ASCVD (Arteriosclerotic Cardiovascular Disease) equivalent to heterozygous familial hypercholesterolemia]
  • Homocysteine (independent risk factor for cardiovascular disease).
  • DNA analyses in cases of suspected genetic causes such as familial hypercholesterolemia or familial hypertriglyceridemia [comment: primarily the phenotype (LDH cholesterol elevation) is treated not the genotype (detection of a mutation)].
  • Family screening in familial hypercholesterolemia.
    • Blood lipids of parents and first-degree relatives should be screened

Strict dietary abstinence of 12 hours is required before laboratory testing, as there should be no chylomicrons in the serum sample. Since alcohol leads to an acute increase in triglycerides, an alcohol abstinence of 72 hours is also necessary. * Indications for determination of cholesterol levels (total cholesterol; LDL cholesterol, HDL cholesterol).

  • As a routine parameter to determine the risk of atherosclerosis (risk of hardening of the arteries) in all adults aged 20 years and older.
  • In children and adolescents whose parents or first-degree relatives have cardiovascular disease before the age of 45 (for men) or 55 (for women), respectively
  • In children of parents among whom part has familial hypercholesterolemia (FH) or:
    • Total cholesterol > 300 mg/dl (> 7.8 mmol/l) or LDL-C > 190 mg/dl (4.9 mmol/l).
    • Premature coronary artery disease (women < 60 years, men < 55 years).
    • Presence of xanthomas
  • Therapy control during treatment with lipid-lowering agents (lipid-lowering drugs).

* * Indications for single determination of lipoprotein (a):

  • Striking family history of premature cardiovascular events and/or elevated Lp(a).
  • Familial hypercholesterolemia (FH).
  • Moderate or high cardiovascular risk with premature cardiovascular disease (women < 60 years, men < 55 years),
  • Recurrent cardiovascular events despite LDL cholesterol lowering.
  • ≥ 5% 10-year risk of fatal cardiovascular disease (CVD) according to SCORE.