FH is usually diagnosed by a simple blood cholesterol test, called a “lipid panel,” and consideration of personal and family history. Genetic testing may be done to identify the abnormal LDL receptor gene, but is usually not necessary. Signs of FH may also be visible during a physical exam. These can include yellow deposits on the skin around the eyes, a ring on the colored part of the eye, and small masses or thickening on the hands, elbows and/or back of the ankles.
Formal diagnosis of FH can be made by using any one of several sets of criteria, such as the diagnosis guidelines outlined by Make Early Diagnosis Prevent Early Death (MEDPED), the Dutch Lipid Clinic Network, and the Simon-Broome Registry. Your lipid specialist can talk with you in greater details about how to diagnose FH.
Testing close family members enables early detection of the disease.
In families where FH has been diagnosed, it is advised that children are tested for FH at about age 2. This allows early dietary changes to encourage healthy eating.
Some children with very high cholesterol levels, or a close family member with very early onset heart attack or stroke, may need treatment with medications to lower their blood cholesterol to a safer level.
Related Information
