Gull Rukham, Rashid Muhammad Humayoun, Aleem Muhammad Saad, Salman Muhammad Omar, Khalid Ammar
Internal Medicine, Nishtar Medical University, Multan, PAK.
Cardiology, Chaudhry Pervaiz Elahi Institute of Cardiology, Multan, PAK.
Cureus. 2020 Oct 19;12(10):e11037. doi: 10.7759/cureus.11037.
Familial hypercholesterolemia (FH) is one of the inherited causes of coronary artery disease (CAD) and causes calcific valvular degeneration in rare cases. A 13-year-old boy with multiple xanthomas presented with severe chest pain, shortness of breath, and sweating. He was diagnosed with premature CAD leading to non-ST-elevation myocardial infarction, secondary to early-onset FH [severely raised low-density lipoprotein (LDL) and triglycerides (TG) on lipid profile]. CT angiogram showed triple vessel disease, and echocardiogram revealed tight aortic stenosis. Percutaneous coronary angioplasty was done, and valvuloplasty was planned on the follow-up assessment. Early diagnosis and prompt management could have prevented these complications.
家族性高胆固醇血症（FH）是冠状动脉疾病（CAD）的遗传性病因之一，在罕见情况下可导致钙化性瓣膜退变。一名患有多处黄瘤的13岁男孩出现严重胸痛、呼吸急促和出汗症状。他被诊断为早发性CAD导致非ST段抬高型心肌梗死，继发于早发性FH（血脂谱显示低密度脂蛋白（LDL）和甘油三酯（TG）严重升高）。CT血管造影显示三支血管病变，超声心动图显示严重主动脉瓣狭窄。已进行经皮冠状动脉成形术，并计划在后续评估中进行瓣膜成形术。早期诊断和及时治疗本可预防这些并发症。
