Familial hypercholesterolemia with multiple expression: ventricular tachycardia, hyperthyroidism, and suggestive clinical stigmata

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.