Screening is performed by routine lipid monitoring. I initiate therapy for those that have FH. If lipid goals are not achieved after follow up lipid evaluation I add on therapy and repeat. Ultimately to achieve lipid goals for the patient. Obviously this process is attained with shared decision making.

Early detection and treatment is important to reduce risk of cv events and plaque burden. Multi drug therapy is needed to taken as many mechanisms of LDL cholesterol production.

Familial hypercholesterolemia is diagnosed with specific LDL cholesterol levels: over 190\ mg/dL for adults and over 160\ mg/dL for children. For homozygous FH, a much more severe form, LDL levels can exceed 400 and it can be conformed with A blood or saliva test can be performed to look for specific gene mutations often in genes like LDLR, APOB, PCSK9, and LDLRAP1. Most of the time Statin therapy with ezemtimbe work but PCSK-9 inhibitors have to be used ! Lpa level must be done along with it as LDL not responding to statins often has elevated lpa and in those cases PCSK-9 inhbitors have to be used In some resistant cases Ekveeza has to be used ! Pts with FH need to be managed as Coronary Artery Disease equivalent and need to be target LDL at least less than 70

I have never prescribed high cholesterol treatment for children nor seen any of my colleagues do this. There may be a need for some national guidelines to move the needle on this.

It really doesn't matter if it is familial or otherwise. Treat the crap out of it.

I usually start with patient family history, I will check a standard lipid profile ( but also LPa level as another marker as higher risk. When ldl >190 it is usually FH. I start with statin, but this is usually not enough so Zetia or bempenoic acid is my first add on but have a low threshold to add a PCSK9 inhibitor. However these may be more difficult to get prior authorization unless patient has ASCVD. Given how high the lipid levels are and the high risk FH patients are for early events I “ look for “ signs of ASCVD ( calcium score, prior ct scan showing coronary or aortic calcification. ) sometimes I also will look at carotid is for plaque

Assessing family history, monitoring lipids annually, and risk factors. Many labs have panels for testing for familial hypercholesterolemia lipid profile.
Start with higher dose statins Lipitor or crestor, add on for a goal less than 70 with either zetia, levquio, or pcsk9 inhibitors. Of course diet,exercise and weight loss goes along way.

will do lipids annually. look for the ldl over 160 usually start on stating medium dose then go to high dose then add PSK( if not controlled) aim for ldl under 55

Many of these folks can be identified by family history and findings in their skin or eyes (Dutch lipid clinic score). Regardless, statins are often not enough and PCSK9i, and other drugs in combination are often needed. For the most refractory, lipid apheresis is needed.

We are very keen about identifying familial patients promptly. Some of this is obtained by history and some by evaluation of bloodwork. Although lifestyle modification is important These patients in general require aggressive, pharmacologic therapy.

Lipid panels are done annually on all our patients. In Finding elevated TG levels, we first try dietary restrictions. If that isn't enough, statins are tried followed by fibrates, niacin, icosapent, and PCSK9 inhibitors.

these are the patients that will benefit most from PCSK9i in terms of LDL lowering and atheroma/ plaque regression . Aim for LDL< OR CLOSE TO 55 IF POSSIBLE WITH PROPER PCSK9I INTENSIFIED TREATMENT . Usually I do not discontinue the statin if tolerated close to maximum dose , but from my experience statins are not usually lowering the LDL enough even when ezetimibe is added.

Usually we do annual lipid panels to identify these patients and then from there we'll consider carotid artery IMT, calcium heart scan and advanced lipid testing as well. There are lipid clinics nearby our facility that we can refer to as well. Usually I'll consider statin therapy first since insurance covers this best but if not at goal and noted ASCVD I would escalate to PCSK9 and also low dose xarelto PO BID to help with this and have him establish care with cardiology.

Systematic screening strategies are critical since most FH cases go unnoticed until an ASCVD event:
• LDL-C thresholds: Persistent LDL-C ≥190 mg/dL in adults (≥160 mg/dL in children) without secondary causes is a major red flag.
• Clinical tools: Dutch Lipid Clinic Network (DLCN), Simon Broome, or MEDPED criteria can stratify the likelihood of FH based on LDL-C levels, family history, and clinical findings (xanthomas, corneal arcus).
• Cascade screening: Testing first-degree relatives of known FH patients remains the most efficient approach to uncover additional cases.
• Genetic testing: Increasingly used to confirm diagnosis and guide therapy, especially when considering PCSK9 or siRNA therapies.

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2. When to Escalate Therapy

Escalation depends on baseline LDL-C, current therapy, and residual risk:
• Start early and be aggressive: Most guidelines (AHA/ACC 2022, ESC/EAS 2023) recommend immediate high-intensity statin + ezetimibe at diagnosis.
• Add-on therapy:
• PCSK9 inhibitors (evolocumab, alirocumab) when LDL-C >70 mg/dL (ASCVD) or >100 mg/dL (FH primary prevention) despite maximal statin/ezetimibe.
• Inclisiran (siRNA PCSK9 synthesis inhibitor) for patients needing durable LDL-C lowering with less frequent dosing.
• Evinacumab (ANGPTL3 inhibitor) for homozygous FH or severe refractory heterozygous cases.
• Lipoprotein(a): If elevated, intensification or clinical trial enrollment may be appropriate.

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3. Sustaining LDL-C Control Long-Term

Sustained success depends on behavioral, clinical, and system-level supports:
• Patient education: Framing FH as a lifelong genetic condition—not just “high cholesterol”—helps improve adherence.
• Simplify regimens: Two-in-one combination pills or long-acting therapies (e.g., inclisiran every 6 months) can enhance persistence.
• Follow-up cadence: Recheck lipids 6–8 weeks after therapy change, then every 3–6 months once stable.
• Multidisciplinary coordination: Lipid clinics, genetic counselors, and pharmacists can bridge gaps between detection and therapy intensification.
• Family-based care: Coordinating screening and follow-up across relatives improves both adherence and outcomes.

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Would you like me to outline a workflow or algorithm that integrates early detection, therapy escalation, and follow-up tracking for FH patients (something you could use in clinic or presentation format)?