ABSTRACT
Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins. Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation.
Subject(s)
Apolipoprotein B-100/genetics , Hypobetalipoproteinemia, Familial, Apolipoprotein B/genetics , Mutation , Amino Acid Substitution , Apolipoprotein B-100/blood , Apolipoprotein B-100/deficiency , Child , Codon, Nonsense , Female , Humans , Hypobetalipoproteinemia, Familial, Apolipoprotein B/blood , Hypobetalipoproteinemia, Familial, Apolipoprotein B/drug therapy , Mutation, Missense , Vitamin A/therapeutic use , Vitamin E/therapeutic useABSTRACT
Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol. We report the case of impairment of retinal function and diffuse pain in both legs often related to physical activity, as well as the presence of acanthocytosis on peripheral blood smear. Neurophysiological studies suggested dysfunction of the thin myelinated (A) and unmyelinated (C) fibers, in spite of preserved A fiber function, which has not been previously described in this condition. All clinical symptoms and the neurophysiological abnormalities improved after high-dose vitamin E and A supplementation. These findings suggest that this syndrome may have a wide spectrum of manifestations and an early appearance of symptoms in the pediatric age group.
