CUTANEOUS AND CARDIOVASCULAR MANIFESTATIONS IN HOMOZYGOUS FH: ONE CASE, TWO SYSTEMS, ONE DISEASE

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease characterized by extremely high LDL cholesterol levels from childhood, associated with early cutaneous manifestations and severe and premature cardiovascular disease. The relevance of this study lies in the need for early clinical recognition of this frequently underdiagnosed condition to reduce fatal cardiovascular outcomes. The objective of this work is to report a clinical case of HoFH, highlighting the correlation between cutaneous and cardiovascular manifestations as systemic expressions of the same disease. This is a case report of a 52-year-old male patient, seen in a tertiary cardiology service, who underwent detailed clinical evaluation, laboratory tests, cardiovascular imaging methods, and molecular genetic testing. The findings included tendon xanthomas since adolescence, extremely high LDL-cholesterol levels despite high-intensity statin therapy, elevated coronary calcium score, severe multivessel coronary artery disease, significant left ventricular dysfunction, and genetic confirmation of homozygous pathogenic variants in the LDLR gene. The high score on the Dutch Lipid Clinic Network corroborated the diagnosis of definite FH. The patient was referred for coronary artery bypass grafting combined with atrial septal defect closure. It is concluded that HoFH should be considered in the presence of early xanthomas and severe dyslipidemia, and that the integration of clinical evaluation, complementary tests, and genetic diagnosis is essential for adequate management and reduction of cardiovascular morbidity and mortality.