Premium
Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic
Author(s) -
Burnett John R,
Proos Anné L,
Koutts Jerry,
Burnett Leslie
Publication year - 1993
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1993.tb137834.x
Subject(s) - daughter , asymptomatic , apolipoprotein b , medicine , cousin , differential diagnosis , cholesterol , lipoprotein , presentation (obstetrics) , endocrinology , pediatrics , genetics , gastroenterology , pathology , biology , surgery , history , archaeology , evolutionary biology
Objective To report a case of familial hypobetalipoproteinaemia in a woman who presented after the incidental finding of marked hypocholesterolaemia during laboratory tests. Clinical features 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. Conclusion 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.