Wierzbicka-Rucińska Aldona, Jańczyk Wojciech, Ługowska Agnieszka, Lebensztejn Dariusz, Socha Piotr
Department of Biochemistry, Radioimmunology and Experimental Medicine, e-mail
Gastroenterology, Hepatology and Eating Disorders, Children's Health Memorial Institute, Warsaw, Poland.
Dev Period Med. 2016;20(3):212-215.
Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis. Elevated levels of low-density lipoprotein-cholesterol or low levels of high-density lipoprotein-cholesterol with elevated transaminase activity should raise the suspicion of lysosomal acid lipase deficiency in the diagnostic workup. Still, some patients may not present with abnormal triglyceride and cholesterol concentrations. Early onset LAL-D has a different clinical presentation, with acute symptoms, including liver failure, and can be confused with many other metabolic conditions or with lymphohistiocytosis. The dried blood spot test enables rapid diagnosis and should be widely applied when the cause of liver disease remains unknown.
溶酶体酸性脂肪酶缺乏症可在任何年龄出现（婴儿、儿童和成人）。其临床表现通常包括血清转氨酶活性水平升高、高胆固醇血症、脂肪肝、进行性肝纤维化和肝硬化。非特异性临床表现可导致儿童和成人的诊断延迟。纤维化和肝硬化的早期发展表明，肝脏中胆固醇酯和甘油三酯的溶酶体积聚是纤维化的有力诱导因素。在诊断检查中，低密度脂蛋白胆固醇水平升高或高密度脂蛋白胆固醇水平降低且转氨酶活性升高应引起对溶酶体酸性脂肪酶缺乏症的怀疑。然而，一些患者可能没有甘油三酯和胆固醇浓度异常。早发型LAL-D有不同的临床表现，有急性症状，包括肝衰竭，可能与许多其他代谢疾病或淋巴细胞组织细胞增生症混淆。干血斑试验能够实现快速诊断，当肝病病因不明时应广泛应用。
