title: [Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia].
abstract: Familial Hypercholesterolemia (FH) and Familial Defective Apolipoprotein B-100 (FDB) are monogenic, autosome, dominantly inherited diseases appearing as type II/a primary hypercholesterolemia. The frequency of the heterozygositic forms is 1:700-1:500 in European population. Both forms of hypercholesterolemia causes early onset coronary heart diseases (CHD). According to the recommendations of the international MED-PED program (Make Early Diagnoses--Prevent Early Death), we found 73 FH cases and their 377 first relatives (parents, siblings, children) were also assessed. 156 patients were diagnosed clinically FH (131 alive and 25 deceased), and 31.8% of the males and 32.4% of females suffered from early onset CHD. One family with FH consists of 5.46 members on the average and there are 2.39 FH patients in one family. In our FH cohort four patients with FDB (R3500Q mutation) were diagnosed with allelspecific PCR, and the mutation was detectable also in 9 cases out of 11 living family members. The plasma total cholesterol level of the FDB patients--especially at younger age--was very close to the normal values, which is in contrast to the findings in FH patients. Nevertheless, FDB can be one of the independent causes of the early onset CHD. Therefore, in families with high frequency of cardiovascular diseases the R3500Q mutation has to be considered.
authors.affiliation: MAV Kórház Budapest.
authors.forename: A
authors.initials: A
authors.lastname: Kalina
authors.forename: E
authors.initials: E
authors.lastname: Czeizel
authors.forename: L
authors.initials: L
authors.lastname: Romics
authors.forename: G
authors.initials: G
authors.lastname: Pados
authors.forename: I
authors.initials: I
authors.lastname: Reiber
authors.forename: A
authors.initials: A
authors.lastname: Dósa
authors.forename: I
authors.initials: I
authors.lastname: Hermányi
authors.forename: Z
authors.initials: Z
authors.lastname: Lakatos
authors.forename: J
authors.initials: J
authors.lastname: Tarján
authors.forename: E
authors.initials: E
authors.lastname: Kollega-Tarsoly
authors.forename: M
authors.initials: M
authors.lastname: Kovács
authors.forename: C
authors.initials: C
authors.lastname: Szalai
authors.forename: A
authors.initials: A
authors.lastname: Császár
mesh_terms: D000328:Adult; D000368:Aged; D001055:Apolipoproteins B / Q000097:blood*; D003327:Coronary Disease / Q000097:blood* / Q000453:epidemiology; D005260:Female; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D006937:Hypercholesterolemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D015994:Incidence; D008297:Male; D008875:Middle Aged
chemical_list: D001055:Apolipoproteins B
vernacular_title: A familiáris defektív apolipoprotein B-100 elöfordulási gyakorisága klinikailag familiáris hypercholesterinaemiásnak tartott betegek között.