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Cardiology / Cardiovascular

Familial Hypercholesterolemia

ICD-10 Code
E78.01

Comprehensive clinical criteria for Familial Hypercholesterolemia

Clinical Presentation & Protocol

Patient Usually Complains Of

Patient presents for evaluation of severe hypercholesterolemia. History significant for premature atherosclerotic cardiovascular disease (ASCVD) in first-degree relatives. Reports no prior history of secondary causes of dyslipidemia. Lipid profile demonstrates LDL-C >190 mg/dL. Family history positive for early myocardial infarction or sudden cardiac death.

Clinical Examination Findings

Physical examination reveals presence of tendon xanthomas (notably Achilles tendon or extensor tendons of hands), corneal arcus (if age <45), or xanthelasma. Cardiovascular exam: carotid bruits or systolic murmurs suggestive of aortic stenosis. Peripheral pulses intact. No signs of secondary dyslipidemia (e.g., hypothyroidism or nephrotic syndrome).

Treatment Protocol

Initiate high-intensity statin therapy (e.g., Atorvastatin 40-80mg or Rosuvastatin 20-40mg). Consider add-on therapy with Ezetimibe 10mg. If LDL-C targets remain unmet, evaluate for PCSK9 inhibitor therapy. Lifestyle modification: Mediterranean diet, regular aerobic exercise, and strict smoking cessation. Schedule follow-up lipid panel in 6-8 weeks.

Detailed clinical guide coming soon.