Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of suspected Familial Hypercholesterolemia (FH). Significant history of premature atherosclerotic cardiovascular disease (ASCVD) in first-degree relatives. Patient reports [asymptomatic / exertional chest pain / claudication]. Lipid profile demonstrates persistent severe elevation of LDL-C (>190 mg/dL). No secondary causes identified (e.g., hypothyroidism, nephrotic syndrome, or excessive alcohol intake).
Clinical Examination Findings
Physical examination focused on stigmata of severe hypercholesterolemia: Tendon xanthomas noted on [Achilles tendons / extensor tendons of the hands]. Corneal arcus present in patient <45 years of age. Xanthelasma noted on [eyelids]. Cardiovascular exam: [Regular rate and rhythm / carotid bruits / presence of murmurs]. Peripheral pulses: [Symmetric / diminished].
Treatment Protocol
Initiate high-intensity statin therapy (e.g., Atorvastatin 40-80mg or Rosuvastatin 20-40mg). Consider add-on therapy with Ezetimibe 10mg daily. If LDL-C remains above goal, evaluate for PCSK9 inhibitor therapy (e.g., Evolocumab or Alirocumab). Referral to lipid specialist or genetic counseling recommended. Target LDL-C reduction: >50% from baseline or <70 mg/dL (or <55 mg/dL if high-risk).