Comprehensive genetic analysis of patients at risk for FH identified causative mutations in 37% of cases.
While cholesterol levels were higher overall for positive cases, the range was relatively large, and one individual screened at age 36 had an LDL of 173 mg/uL, below the professionally recommended threshold for suspected FH (>190 mg/dL for individuals over 20).
Patients heterozygous for APOB mutations had near-significantly lower mean LDL levels than LDLR heterozygotes (p=0.052), supporting similar reports of milder presentations with APOB mutations.
Authors: Andy Castro; Tami Johnston; Lily Hoang; Jessica Gage; Jill Dolinsky; Christian Antolik