This test may be appropriate to confirm a diagnosis of FH for:
- Individuals with a personal history of hypercholesterolemia or an uncertain clinical diagnosis of FH
- Clinical diagnostic criteria are available through the Dutch Lipid Clinic Network,1 the Simon Broome Register Group,2 and the US MEDPED Program3
- Individuals with a personal or family history of developing cardiovascular disease or coronary artery disease at a young age
- Individuals with a personal or family history of visible lipid deposits in the tendons (tendon xanthoma) or eyes (corneal arcus)
When multiple family members are affected, the person with the earliest symptom onset should be tested first if possible.
Informed consent following genetic counseling is strongly recommended.