LDL-cholesterol raising genetic defects include:
(1) mutations in LDL-receptor
(2) mutations in apolipoprotein B
(3) mutations in PCSK9
Clinical criteria for heterozygous familial hypercholesterolemia:
(1) >= 1 first-degree relative with one or more of the following:
(1a) serum LDL-C similar to values below
(1b) premature coronary artery disease
(1c) positive genetic testing for an LDL-C-raising genetic defect
(2) one of the following:
(2a) serum LDL-C >= 160 mg/dL in pediatric patient
(2b) serum LDL-C >= 190 mg/dL in adult
Genetic criteria - one of the following:
(1) 1 abnormal LDL-C raising genetic defect
(2) presence of >= 1 LDL-C raising genetic defect(s) AND a LDL-C lowering gene variants AND LDL-C < 160 mg/dL
If a patient has 1 abnormal LDL-C raising genetic defect AND a serum LDL-C > 400 mg/dL, then the patient is treated as a homozygote.
