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Genetic testing for familial hypercholesterolemia

Session:

#235

Date:

Thursday, Apr 26, 2018 8:00am – 5:30pm

Conference:

—

Authors:

Andy Castro, Christian Antolik, Jessica Gage, Jill Dolinsky, Lily Hoang, Tami Johnston

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.

Abstract Poster