Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.
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.


CONCLUSIONS
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.
Kairamkonda
V
V
Department of Gastroenterology, Alder Hey Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK.
Dalzell
M
M
Department of Gastroenterology, Alder Hey Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK. Mark.Dalzell@RLCH-TR.NWEST.NHS.UK.
D000293:Adolescent; D001055:Apolipoproteins B / Q000097:blood; D002446:Celiac Disease / Q000209:etiology; D002648:Child; D002784:Cholesterol / Q000097:blood; D005242:Fecal Incontinence / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D008297:Male; D035781:Siblings; D014811:Vitamin E Deficiency / Q000209:etiology
D001055:Apolipoproteins B; D002784:Cholesterol