title: Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic.
abstract: OBJECTIVE
  To report a case of familial hypobetalipoproteinaemia in a woman who presented after the incidental finding of marked hypocholesterolaemia during laboratory tests.
  
  
  METHODS
  An asymptomatic 37-year-old Lebanese woman presented to the lipid clinic with a serum total cholesterol concentration of 1.1 mmol/L, high density lipoprotein (HDL) cholesterol of 1.0 mmol/L, and triglycerides of 0.28 mmol/L. No secondary cause for the hypocholesterolaemia was established. INVESTIGATION AND OUTCOME: Her serum apolipoprotein B (apo B) levels were markedly reduced at 0.07 g/L. Except for one daughter (IV-4), all other family members including her husband (her first cousin) had apo B levels about 25% of normal. Daughter IV-4 had undetectable apo B levels. Family studies confirmed an autosomal dominant pattern of inheritance consistent with familial hypobetalipoproteinaemia.
  
  
  CONCLUSIONS
  Familial hypobetalipoproteinaemia is a rare condition that should be considered in the differential diagnosis of hypocholesterolaemia. Absence of clinical features, autosomal dominant pattern of inheritance, and reduced apo B levels suggest the diagnosis.
authors.affiliation: Department of Clinical Chemistry, Westmead Hospital, NSW.
authors.forename: J R
authors.initials: JR
authors.lastname: Burnett
authors.forename: A L
authors.initials: AL
authors.lastname: Proos
authors.forename: J
authors.initials: J
authors.lastname: Koutts
authors.forename: L
authors.initials: L
authors.lastname: Burnett
mesh_terms: D000293:Adolescent; D000328:Adult; D001053:Apolipoproteins / Q000032:analysis; D002648:Child; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D010375:Pedigree; D014815:Vitamins / Q000097:blood
chemical_list: D001053:Apolipoproteins; D008055:Lipids; D014815:Vitamins; D002784:Cholesterol