Saad Michelle, Syed Sabeen
Driscoll Children's Hospital, affiliated with Texas A&M University Health Science Center, Corpus Christi, TX.
ACG Case Rep J. 2021 Jan 13;8(1):e00516. doi: 10.14309/crj.0000000000000516. eCollection 2021 Jan.
Lysosomal acid lipase is an under-recognized enzyme involved in the modulation and expression of genes that part-take in the synthesis and uptake of cholesterol. We describe the unusual course of a 2-year-old patient who presented with hypercholesterolemia and elevated liver enzymes, initially misdiagnosed with familial hypercholesterolemia. The absence of a suggestive family history triggered further testing that revealed complete lysosomal acid lipase deficiency that typically presents in infancy as Wolman disease with failure to thrive, malabsorption, and liver failure. Interestingly, the patient's clinical picture suggested cholesteryl ester storage disease instead, a milder phenotype in older patients.
溶酶体酸性脂肪酶是一种未得到充分认识的酶，参与调控和表达与胆固醇合成及摄取相关的基因。我们描述了一名2岁患者的不寻常病程，该患者出现高胆固醇血症和肝酶升高，最初被误诊为家族性高胆固醇血症。由于缺乏提示性家族史，进一步检查发现其存在完全性溶酶体酸性脂肪酶缺乏，这种情况在婴儿期通常表现为沃尔曼病，伴有生长发育迟缓、吸收不良和肝功能衰竭。有趣的是，该患者的临床表现提示为胆固醇酯贮积病，这是老年患者中一种较温和的表型。
