Children Diagnosis
ÎUntreated fasting lipid levels at which FH may be suspected in children, adolescents and young adults (< 20 years) are LDL-C concentrations ≥ 160 mg/dL or non–HDL-C ≥ 190 mg/dL. These levels are supported by family studies of affected individuals.
ÎA second lipid profile should be performed to assess response to diet management, to account for regression to the mean, and to accurately classify those with levels close to classification thresholds.
Cardiovascular Risk
ÎComprehensive CHD risk assessment and management is critical. The presence of multiple CHD risk factors is associated with dramatic acceleration of atherosclerosis development.
ÎPrimordial prevention, which includes counseling for the prevention of risk development (not smoking, low saturated fat diet, appropriate caloric intake and regular physical activity supporting the avoidance of diabetes), is an important component of treatment of patients with FH.
Treatment
ÎFor treatment of children with FH, either consultation with or referral to a lipid specialist is recommended.
Comment: Pediatric lipid specialists include pediatric cardiologists, endocrinologists, or other health care providers with specialized lipidology training. Use of lipid lowering medications is currently not typically part of pediatric training.
ÎStatins are preferred for initial pharmacologic treatment in children after initiation of diet and physical activity management.
ÎConsideration should be given to starting treatment at the age of 8 years or older.
Comment: In special cases, such as those with homozygous FH, treatment might need to be initiated at earlier ages.
ÎClinical trials with medium-term follow-up suggest safety and efficacy of statins in children.
ÎThe treatment goal of lipid lowering therapy in pediatric FH patients is a ≥ 50% reduction in LDL-C or LDL-C < 130 mg/dL.
Comment: There is a need in treatment of pediatric FH for balance between increased dosing and the potential for side effects vs. achieving goals. More aggressive LDL-C targets should be considered for those with additional CHD risk factors.
Homozygous FH
ÎInitiation of therapy early in life and ongoing monitoring of homozygous FH is vital.
ÎHigh-dose statins may be effective in some homozygous FH patients, but the majority will require LDL apheresis.
ÎThere are investigational therapies in development that may be particularly beneficial for homozygous FH patients.
