Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic.
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.
Burnett
J R
JR
Department of Clinical Chemistry, Westmead Hospital, NSW.
Proos
A L
AL
Koutts
J
J
Burnett
L
L
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
D001053:Apolipoproteins; D008055:Lipids; D014815:Vitamins; D002784:Cholesterol