Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

Abstract

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.

CONCLUSION:

Tunisian FH heterozygotes are characterized by a moderate clinical and biological expression of the disease.

• Authors: Awatef Jelassi, Afef Slimani, Imen Jguirim, Mohamed Najah, AbdelMajid Abid, Lamia Boughamoura, Jawhar Mzid, Moncef Fkih, Fawzi Maatouk, Mustapha Rouis, Mathilde Varret, Mohamed Naceur Slimane
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 411 Issue 9-10 Pg. 735-8 (May 02 2010) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 20144596 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2010 Elsevier B.V. All rights reserved.

Chemical References

• Cholesterol, HDL
• Cholesterol, LDL
• Receptors, LDL
• Triglycerides
• Cholesterol

Topics

• Adolescent
• Adult
• Age Factors
• Aged
• Aged, 80 and over
• Arcus Senilis (epidemiology, etiology)
• Child
• Child, Preschool
• Cholesterol (blood)
• Cholesterol, HDL (blood)
• Cholesterol, LDL (blood)
• Coronary Disease (epidemiology, etiology)
• Female
• Heterozygote
• Homozygote
• Humans
• Hyperlipoproteinemia Type II (blood, complications, genetics)
• Male
• Middle Aged
• Mutation (genetics)
• Receptors, LDL (genetics)
• Sex Characteristics
• Triglycerides (blood)
• Tunisia
• Xanthomatosis (epidemiology, etiology)
• Young Adult