PMID- 9600371
OWN - NLM
STAT- MEDLINE
DCOM- 19980731
LR  - 20190817
IS  - 0192-0790 (Print)
IS  - 0192-0790 (Linking)
VI  - 26
IP  - 3
DP  - 1998 Apr
TI  - A-beta-lipoproteinemia: clinical and laboratory features, therapeutic 
      manipulations, and follow-up study of three members of a Greek family.
PG  - 207-11
AB  - 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.
FAU - Triantafillidis, J K
AU  - Triantafillidis JK
AD  - Department of Gastroenterology, Laicon Hospital, Athens, Greece.
FAU - Kottaras, G
AU  - Kottaras G
FAU - Sgourous, S
AU  - Sgourous S
FAU - Cheracakis, P
AU  - Cheracakis P
FAU - Driva, G
AU  - Driva G
FAU - Konstantellou, E
AU  - Konstantellou E
FAU - Parasi, A
AU  - Parasi A
FAU - Choremi, H
AU  - Choremi H
FAU - Samouilidou, E
AU  - Samouilidou E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Clin Gastroenterol
JT  - Journal of clinical gastroenterology
JID - 7910017
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-B18 Antigen)
RN  - 0 (Lipids)
RN  - 11103-57-4 (Vitamin A)
RN  - 1406-18-4 (Vitamin E)
SB  - IM
MH  - Abetalipoproteinemia/blood/*genetics/therapy
MH  - Adolescent
MH  - Adult
MH  - Biopsy
MH  - Diet, Fat-Restricted
MH  - Female
MH  - Genetic Carrier Screening
MH  - Greece
MH  - HLA-B Antigens/genetics
MH  - HLA-B18 Antigen
MH  - Homozygote
MH  - Humans
MH  - Intestinal Mucosa/pathology
MH  - Intestine, Small/pathology
MH  - Lipids/blood
MH  - Male
MH  - Vitamin A/administration & dosage
MH  - Vitamin E/administration & dosage
EDAT- 1998/05/26 00:00
MHDA- 1998/05/26 00:01
CRDT- 1998/05/26 00:00
PHST- 1998/05/26 00:00 [pubmed]
PHST- 1998/05/26 00:01 [medline]
PHST- 1998/05/26 00:00 [entrez]
AID - 10.1097/00004836-199804000-00012 [doi]
PST - ppublish
SO  - J Clin Gastroenterol. 1998 Apr;26(3):207-11. doi: 
      10.1097/00004836-199804000-00012.