Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.
BACKGROUND
Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Xanthomas and coronary heart diseases (CHD) at an early age are the major clinical manifestations of the disease.


METHODS
16 families with familial hypercholesterolemia from different regions in Tunisia participated in the study. Mutations within the LDLR gene were screened through DNA sequencing. Lipids values were measured by standard enzymatic methods.


RESULTS
We present here thirty five homozygotes and fifty six heterozygotes. Homozygotes presented extensive xanthomatosis, variable clinical manifestations of CHD, and total cholesterol levels in males and females of 17.26+/-4.18 and 17.64+/-2.59 mmol/L respectively. HDL-cholesterol levels were 0.62+/-0.24 and 1.00+/-0.61 mmol/L for males and females, respectively. None of the heterozygotes had tendon xanthomas (except for one female aged 62), eight had corneal arcus, and nine developed CHD mean between 46 and 88 years old. Total cholesterol levels in males and females ranged from 4.60 to 8.90 and from 4.30 to 10.50 mmol/L, respectively.


CONCLUSIONS
Tunisian FH heterozygotes are characterized by a moderate clinical and biological expression of the disease.
Research Unit of Genetic and Biological Factors of Atherosclerosis, Faculty of Medicine, Monastir, Tunisia.
Awatef
A
Jelassi
Afef
A
Slimani
Imen
I
Jguirim
Mohamed
M
Najah
AbdelMajid
A
Abid
Lamia
L
Boughamoura
Jawhar
J
Mzid
Moncef
M
Fkih
Fawzi
F
Maatouk
Mustapha
M
Rouis
Mathilde
M
Varret
Mohamed Naceur
MN
Slimane
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001112:Arcus Senilis / Q000453:epidemiology / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003327:Coronary Disease / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood* / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics*; D012727:Sex Characteristics; D014280:Triglycerides / Q000097:blood; D014416:Tunisia; D014973:Xanthomatosis / Q000453:epidemiology / Q000209:etiology; D055815:Young Adult
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D011973:Receptors, LDL; D014280:Triglycerides; D002784:Cholesterol