Should Someone with Familial Hypercholesterolemia Follow Up with a Lipid Specialist?
Yes, all patients with suspected or confirmed familial hypercholesterolemia (FH) should be referred to or discussed with a lipid specialist to plan further management and care. 1
Guideline-Based Recommendation for Specialist Referral
The International Atherosclerosis Society explicitly states that all patients with suspected FH should be referred to, or discussed with, a relevant specialist to plan further management and care. 1 This is a Class 1 recommendation, representing the highest level of evidence-based guidance.
Why Specialist Involvement is Critical
National and regional centers with expertise in lipidology, genetics, and atherosclerotic cardiovascular disease (ASCVD) prevention should be established to accept referrals and give advice. 1 The complexity of FH management requires specialized knowledge that extends beyond routine primary care:
Genetic confirmation and cascade testing: Lipid specialists can coordinate genetic testing to confirm diagnosis, identify specific pathogenic variants in LDLR, APOB, PCSK9, or LDLRAP1 genes, and facilitate cascade testing of family members 2, 3
Complex treatment decisions: FH patients often require combination therapies including high-intensity statins, ezetimibe, and PCSK9 inhibitors to achieve LDL-cholesterol goals 2, 4
Specialized centers for severe cases: A key priority is establishing specialized centers for managing patients with severe heterozygous FH or homozygous FH (HoFH), who may require lipoprotein apheresis or novel therapies like lomitapide 1, 4
The Multidisciplinary Care Model
A multidisciplinary team with expertise in caring for individuals with FH should partner with primary care and include representation from appropriate specialty disciplines, including mental health care. 1 This doesn't mean primary care is excluded—rather, it means specialist oversight is essential:
Primary care remains actively involved in screening, diagnosing, managing cholesterol-lowering therapy, addressing comorbidities, and providing regular review 1
Specialists provide the expertise for genetic counseling, advanced treatment options, cardiovascular imaging interpretation, and management of treatment-resistant cases 2, 3
Clinical Implications for Morbidity and Mortality
The rationale for specialist involvement directly impacts patient outcomes:
FH leads to premature ASCVD if untreated: By age 50% of men and 25% of women with untreated FH will experience clinical cardiovascular disease 1, 2
Only 10% of FH cases are currently diagnosed, and >80% of those treated do not achieve recommended LDL-cholesterol goals 2
Early diagnosis and aggressive treatment with lipid-lowering therapies can significantly alter the natural history of FH, reducing ASCVD events 2, 5
Specialist-led care ensures appropriate risk stratification, including use of CT coronary angiography, carotid ultrasonography, and echocardiography to assess subclinical atherosclerosis 2
Common Pitfalls to Avoid
Underestimating disease severity: A 15-year-old with heterozygous FH has the same atherosclerotic burden as a 20-35 year old with average lipid profile 2
Delaying specialist referral: Silent atherosclerosis progression occurs when early intervention is delayed; earlier treatment leads to greater reduction in ASCVD events 2
Assuming primary care alone is sufficient: The complexity of genetic testing, cascade screening, advanced pharmacotherapy, and potential need for apheresis requires specialist expertise 1, 2