家族性高コレステロール血症の早期指標としての汎発性皮膚黄色腫：診断と治療に関する洞察

A thin young man in his early 20s presented with multiple yellowish skin lesions on his face, trunk and limbs, which had first appeared during his prepubertal years. A detailed history, thorough clinical examination, along with dermoscopic and histopathological evaluations, were carried out. Interestingly, there was a family history of similar symptoms, and lab investigations revealed abnormal lipid profiles. Based on the clinical findings and investigations, a diagnosis of cutaneous xanthomas associated with familial hypercholesterolaemia was made.Given the elevated levels of total cholesterol and low-density lipoprotein, the patient was further evaluated for systemic complications. Surprisingly, CT angiography revealed moderate atherosclerotic changes in several major blood vessels, despite his young age. He was promptly started on statin therapy, and planned to initiate treatment with proprotein convertase subtilisin/kexin type 9 inhibitors to help achieve better lipid control. Additionally, surgical excision of the larger tendinous xanthomas was scheduled in consultation with the plastic surgery team.