Kairamkonda V, Dalzell M
Department of Gastroenterology, Alder Hey Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK.
Eur J Pediatr. 2003 Mar;162(3):129-131. doi: 10.1007/s00431-002-1123-5. Epub 2003 Jan 11.
We describe three siblings with the unusual presentation of manifest steatorrhoea and vitamin E deficiency mimicking homozygous familial hypobetalipoproteinaemia (FHBL) but whose lipid profile (cholesterol and ApoB) was consistent with heterozygous FHBL. Upper gastrointestinal endoscopy and small intestinal biopsy were normal. We discuss the diagnosis with reference to the relevant literature.
although rare, familial hypobetalipoproteinaemia should be considered among the causes of manifest steatorrhoea in childhood even without evidence of failure to thrive. Dietary restriction of fat and high dose vitamin E supplementation improves quality of life by reducing stool frequency and may prevent or delay neurological complications.
我们描述了三例具有明显脂肪泻和维生素E缺乏异常表现的兄弟姐妹，其症状类似纯合子家族性低β脂蛋白血症（FHBL），但其血脂谱（胆固醇和载脂蛋白B）与杂合子FHBL一致。上消化道内镜检查和小肠活检均正常。我们参考相关文献讨论了诊断。
尽管罕见，但即使没有发育不良的证据，在儿童明显脂肪泻的病因中也应考虑家族性低β脂蛋白血症。限制脂肪饮食和高剂量补充维生素E可通过减少排便次数改善生活质量，并可能预防或延缓神经并发症。
