Triantafillidis J K, Kottaras G, Sgourous S, Cheracakis P, Driva G, Konstantellou E, Parasi A, Choremi H, Samouilidou E
Department of Gastroenterology, Laicon Hospital, Athens, Greece.
J Clin Gastroenterol. 1998 Apr;26(3):207-11. doi: 10.1097/00004836-199804000-00012.
We describe the clinicoepidemiologic features, natural history, and therapeutic manipulations in three Greek patients with A-beta-lipoproteinemia (two brothers aged 15 and 29 years, respectively, and one sister aged 30 years). Diarrhea started in infancy in the two brothers and from the age of 13 in the sister. During the second decade of life, central nervous system symptoms became prominent, with fatigue and disturbance in gait and balance. Night blindness developed at a later phase of the disease in the brothers, whereas cavus developed in both legs in the sister. Apolipoprotein B was absent in all patients, and each had more than 50% of acanthocytes present on peripheral smear. The diagnosis of A-beta-lipoproteinemia was established on the basis of small bowel histology and serum lipid estimations. Family studies revealed normal lipid profiles in all healthy members. The human leukocyte antigen (HLA) pattern in the two most severely affected patients was identical. The only detectable difference between the severely ill patients and other members of the family, however, was homozygosity for the HLA B18 antigen, whereas the third patient had no alleles for the HLA B18 antigen. Treatment consisted of a low-fat diet and high doses of vitamins A and E. A modified diet substituting medium-chain triglycerides for dietary fat was also given, with significant improvement in the nutritional status of patients but not in symptoms related to advanced disease, such as retinal and cardiac manifestations. We conclude that the course of the disease in untreated patients is characterized by continuous symptoms. Some of the symptoms, however, especially those related to malabsorption, as well as some anthropometric parameters can be improved by the application of a modified diet including medium-chain triglycerides. We suggest the routine measurement of plasma lipids and apoproteins not only in children with failure to thrive, with unexplained malabsorption, or with neurologic symptoms, but also in adults with chronic diarrhea accompanied by neurologic symptoms or clinical and laboratory signs of malabsorption.
我们描述了三名患有β-脂蛋白血症的希腊患者（分别为一名15岁和一名29岁的兄弟以及一名30岁的姐妹）的临床流行病学特征、自然病史和治疗方法。两名兄弟在婴儿期就开始出现腹泻，而姐妹在13岁时开始出现腹泻。在生命的第二个十年中，中枢神经系统症状变得突出，出现疲劳以及步态和平衡障碍。兄弟俩在疾病后期出现夜盲，而姐妹双腿出现弓形足。所有患者均缺乏载脂蛋白B，外周血涂片上棘形红细胞均超过50%。根据小肠组织学和血脂测定确诊为β-脂蛋白血症。家族研究显示所有健康成员的血脂谱均正常。两名受影响最严重的患者的人类白细胞抗原（HLA）模式相同。然而，重症患者与家族其他成员之间唯一可检测到的差异是HLA B18抗原纯合子，而第三名患者没有HLA B18抗原的等位基因。治疗包括低脂饮食和高剂量的维生素A和E。还给予了用中链甘油三酯替代膳食脂肪的改良饮食，患者的营养状况有显著改善，但与晚期疾病相关的症状，如视网膜和心脏表现，并未改善。我们得出结论，未经治疗的患者疾病进程以持续症状为特征。然而，通过应用包括中链甘油三酯的改良饮食，一些症状，尤其是与吸收不良相关的症状以及一些人体测量参数可以得到改善。我们建议不仅对发育不良、有不明原因吸收不良或有神经症状的儿童，而且对伴有神经症状或有吸收不良临床和实验室体征的慢性腹泻成人，都应常规检测血浆脂质和载脂蛋白。
