Abstract:
Background. Familial hypercholesterolemia (FH) is a monogenic condition often
underdiagnosed, with a high risk of early atherosclerosis. Its association with thyrotoxicosis
and arrhythmias complicates differential diagnosis and requires a multidisciplinary
approach guided by clinical scores and phenotypic markers.
Objective(s). Presentation of a case of familial hypercholesterolemia (Dutch score), with
thyrotoxicosis, tachyarrhythmias, arcus senilis, giant lipoma, and triple-vessel disease,
requiring multidisciplinary care.
Materials and methods. Male, 62, admitted for headache, HTN and palpitations. Holter
ECG: paroxysmal atrial flutter and non-sustained ventricular arrhythmias. LDL 7.32 mmol/L,
total cholesterol 8.38, HDL 0.77, triglycerides 1.6. TSH <0.01, TI-RADS 5 nodule. Bilateral arcus senilis, giant right subscapular lipoma, Dutch score 12 (ESC 2019). CAG: triple-vessel
disease.
Results. The Dutch score of 12 supports the diagnosis of familial hypercholesterolemia,
reinforced by family history and presence of arcus senilis—an early clinical marker of severe
dyslipidemia. The patient has active thyrotoxicosis with a TI-RADS 5 nodule,
tachyarrhythmias, and hypertension. Coronary angiography revealed moderate multivessel
stenoses. Combined lipid-lowering therapy with statin and ezetimibe, beta-blocker, calcium
channel blocker, anticoagulant, and antithyroid drugs was started. A large subscapular
lipoma, documented by ultrasound, is planned for excision. Genetic and lipid screening was
recommended for first-degree relatives.
Conclusion(s). Identification of familial hypercholesterolemia requires systematic
evaluation, including clinical scores (Dutch), phenotypic signs (arcus senilis, xanthomas,
lipomas) and family history. Early management in this case allowed optimization of
cardiovascular risk and complication prevention.
