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US (MEDPED) diagnostic criteria for familial hypercholesterolemia
Age- and relative-specific total cholesterol cut-offs used to diagnose FH in relatives of an index case.
US (MEDPED) diagnostic criteria for familial hypercholesterolemia
Total cholesterol
Age
years
Relationship to a known/confirmed FH case
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When to use
- Cascade screening of relatives of a person with confirmed FH, using total cholesterol alone when genetic testing or full Dutch/Simon Broome workup is not available.
Formula
Total cholesterol cut-offs (mg/dL) by age band (<20, 20-29, 30-39, >=40) and relative category: 1st-degree 220/240/270/290; 2nd-degree 230/250/280/300; 3rd-degree 240/260/290/310; general population 270/290/340/360. Meeting or exceeding the applicable cut-off supports the diagnosis.
Pearls and pitfalls
- Requires an already-identified affected relative (or use of the general-population row) - it is a cascade-screening tool, not a stand-alone diagnostic test.