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Familial hypercholesterolemia

Not a medical test — for research and educational use only

Yeliztli analyses consumer genotyping-array data (23andMe / AncestryDNA), which is not a clinical-grade test. Results are not diagnostic, are not clinically validated, and must not be used to make medical decisions. Array data is especially unreliable for rare, disease-causing variants. Always confirm any finding with an accredited clinical laboratory and discuss it with a qualified clinician or genetic counsellor before acting on it. See the Intended use & disclaimers page for the details and the evidence behind this warning.

This view focuses on familial hypercholesterolemia (FH) — an inherited tendency toward very high LDL cholesterol — by combining three lines of evidence. It is framed against the clinical FH criteria (Dutch Lipid Clinic Network, Simon Broome) for educational reference only, and is not a clinical FH diagnosis.

What it looks at

  1. Monogenic FH variants in LDLR, APOB, and PCSK9 (read from the cardiovascular module's findings). APOB findings follow that module's existing FH criteria, including its ClinVar condition-label and lower-penetrance/risk-allele filters.
  2. APOB R3527Q (rs5742904), the familial-defective-apoB variant, if it's typed and you carry it.
  3. An LDL-C polygenic score (PGS000688) summarising many small-effect variants.

What you'll see

A three-part assessment: any monogenic FH variants you carry, your APOB R3527Q status, and your LDL-C polygenic burden. The polygenic part shows a raw score and how much of it your array actually covers.

It does not measure your cholesterol

This module reads genetics only — it does not measure your LDL-C or check for clinical signs of FH. The polygenic percentile is withheld when it can't be calibrated on un-imputed array data.

Good to know

  • It doesn't detect FH variants on its own — it summarises the cardiovascular module's findings plus the single APOB variant and the polygenic score.
  • APOB is bidirectional. APOB findings with low-LDL-only ClinVar labels—and protein-truncating APOB variants linked to familial hypobetalipoproteinemia even when ClinVar labels aggregate both directions—are reported under Other lipid metabolism and excluded from FH status. Other APOB findings follow the cardiovascular module's existing FH criteria, including its ClinVar condition-label and lower-penetrance/risk-allele filters. Human genetic studies associate protein-truncating variants with low LDL cholesterol (PMID:30939045; DOI:10.1161/CIRCGEN.118.002376 (accessed 2026-07-31); PMID:36723951; DOI:10.1001/jamacardio.2022.5271 (accessed 2026-07-31)).
  • High LDL cholesterol has many causes; genetics is only one. Discuss any concern, and your actual lipid panel, with a clinician.