title: [Familial hypobetalipoproteinemia].
abstract: BACKGROUND
  Familial hypobetalipoproteinaemia (FHBL) is a relatively rare inborn error of metabolism which must be considered in the differential diagnosis of hypocholesterolaemia which cannot be explained by secondary causes (severe malnutrition, generalization of neoplastic disease etc.).
  
  
  RESULTS
  In the submitted paper the authors present the results assembled in a family with four heterozygotes with FHBL. The proband is a 27-year-old woman (total cholesterol (TCh) 1.70, triacylglycerols (TG) 0.20, HDL-cholesterol (HDL-ch.) 1.38, LDL-cholesterol (LDL-ch.) 0.34 all in mmol/l, apolipoprotein B (apo B) 0.25, lipoprotein(a)(Lp(a) 0.09 all in g/l, isoforms of apolipoprotein E/E3 (iso apo E). Mother (age 53 years) of the proband (TCh 3.06, TG 0.37, HDL-ch. 1.99, LDL-ch. 0.90 all in mmol/l, Apo B 0.37, Lp(a) 0.14 all in g/l, iso apo E3/E3)). Two of the proband's sisters (23 and 20 years) (TCh 3.92 and 2.55 resp., TG 0.57 and 0.23 resp. HDL-ch. 1.86 and 1.63 resp., LDL-ch. 1.80 and 0.82 resp. all in mmol/l, Apo B 0.73 and 0.37 resp., Lp(a) 0.47 and 0.63 resp. all in g/l, iso apo E2/E3 and E2/E3 resp.). The diagnosis confirms the autosomal dominant transmission. During the proband's pregnancy (during the 38th week), contrary to normocholesterolaemic women the TCh did not rise (1.43 mmol/l, the TG level (0.62 mmol/l), Apo B (0.43 and Lp(a) 0.18 all in g/l rose.
  
  
  CONCLUSIONS
  According to the available literature this is the first description of FHBL in our literature and a priority investigation of plasma lipid concentrations, lipoproteins and apolipoproteins in a women with a heterozygous form of FHBL during pregnancy.
authors.affiliation: III. interní klinika 1. LF UK a VFN, Praha.
authors.forename: J
authors.initials: J
authors.lastname: Sobra
authors.forename: A
authors.initials: A
authors.lastname: Horínek
authors.forename: R
authors.initials: R
authors.lastname: Ceska
authors.forename: R
authors.initials: R
authors.lastname: Procházková
authors.forename: M
authors.initials: M
authors.lastname: Kvasilová
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree