Related Experiment Video
Updated: Aug 19, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia
1Department of Gastroenterology, Alder Hey Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK.
Unlabelled:
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.
Conclusion:
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.
Related Concept Videos
Pedigree Analysis
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Inborn Errors of Metabolism
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Type I Diabetes III: Clinical Manifestations

