Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of suspected sitosterolemia. History significant for premature atherosclerotic cardiovascular disease, recurrent xanthomas (tendinous or tuberous), and persistent hypercholesterolemia despite standard lipid-lowering therapy. Review of systems positive for arthralgias or hemolytic episodes. Family history notable for autosomal recessive inheritance pattern and early-onset coronary artery disease.
Clinical Examination Findings
Physical examination reveals characteristic cutaneous findings, specifically tuberous or tendinous xanthomas, most commonly involving the Achilles tendons, extensor surfaces of the hands, or elbows. Ophthalmic exam may show corneal arcus. Cardiovascular exam demonstrates potential carotid bruits or diminished peripheral pulses consistent with accelerated atherosclerosis. Hepatosplenomegaly may be noted in cases of associated hemolytic anemia.
Treatment Protocol
Management plan includes strict dietary restriction of plant sterols (avoiding vegetable oils, nuts, seeds, and avocados). Pharmacological intervention initiated with Ezetimibe 10mg daily to inhibit intestinal absorption of phytosterols. Bile acid sequestrants may be considered as adjunctive therapy. Regular monitoring of plasma sitosterol levels and lipid profile is mandatory. Referral to cardiology for management of accelerated atherosclerosis.