Abstract
Purpose. The aim of this study was to measure lipid profiles among severe and mild familial hypercholestrolemic (FH) patients and to screen unrelated families for LDL receptor (LDLR) gene polymorphism.
Methods. Fifteen FH patients and six controls were enrolled in the study. Total cholesterol (CH), triglyceride (TG), high-density lipoprotein (HDL-cholesterol), low-density lipoprotein (LDL) and ApoB-100 levels were measured spectrophotometrically. Patients were classified clinically into severe and mild, based on lipid profile phenotype and the presence of cardiovascular manifestation at the age of disease onset. Low-density lipoprotein exon 4 receptor gene polymorphism was screened by the SSCP method.
Results. FH severe phenotype patients had significantly higher total cholesterol levels (14.34 ± 1.14) mmol/L as compared with mild FH phenotype (10.13 ± 1.23 mmol/L) and experienced earlier symptoms in the childhood (9.25 ± 3.22) years as compared with those of mild phenotype, who did not experience symptoms until the mid of the fourth decade of life (36.7 ± 5.25 years). No significant difference was found between HDL-cholesterol, LDL-cholesterol, ApoB-100 among severe FH as compared with mild FH patients. All FH pedigrees showed the autosomal dominant mode of inheritance. SSCP results showed a wide spectrum of LDL exon 4 gene polymorphism among severe and mild phenotypes, which differed from control.
Conclusions. There are statistical differences between severe and mild phenotype FH patients in total cholesterol, triglyceride and the age of biological expression among FH Jordanians. FH patients showed a wide spectrum of gene polymorphism within the LDLR exon 4 gene. These polymorphisms were different among FH families; this may be related to founder factors, such as the degree of consanguinity among FH patients’ parents and shed light on the importance of the role of genetic screening and counseling in reducing the risk of occurrence of the new severe FH phenotypes that develop severe complications early in life and need LDL aphresis, as well as on the importance of cascade screening to trace and identify people at genetic risk, using family tracing, for an early diagnosis of the mild FH phenotypes that can be treated with lipid lowering therapy and life style changes early to prevent later cardiovascular complications.
Keywords: familial hypercholesterolemia, low-density lipoprotein, receptor, homozygous, heterozygous, SSCP, Apo B-100
Downloads
Download data is not yet available.
Most read articles by the same author(s)
-
Adelė Butėnaitė,
Robertas Strumila,
Aistė Lengvenytė,
Indrė Kotryna Pakutkaitė,
Aušra Morkūnienė,
Aušra Matulevičienė,
Edgaras Dlugauskas,
Algirdas Utkus,
Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms
,
Acta medica Lituanica: Vol. 28 No. 1 (2021): Acta medica Lituanica
-
Vėtra Markevičiūtė,
Medeinė Šilenė Markevičiūtė,
Mindaugas Stravinskas,
Ollier Disease: A Case Series and Literature Review
,
Acta medica Lituanica: Vol. 28 No. 1 (2021): Acta medica Lituanica
-
Audrė Alonderytė,
Giedrius Navickas,
Robertas Stasys Samalavičius,
Pranas Šerpytis,
Review of New Clinical Aspects of Cardiac Pathology in Patients with COVID-19 Infection
,
Acta medica Lituanica: Vol. 28 No. 1 (2021): Acta medica Lituanica
-
Eleni Karlafti,
Athanasios Anagnostis,
Theodora Simou,
Angeliki Sevasti Kollatou,
Daniel Paramythiotis,
Georgia Kaiafa,
Triantafyllos Didaggelos,
Christos Savvopoulos,
Varvara Fyntanidou,
Support Systems of Clinical Decisions in the Triage of the Emergency Department Using Artificial Intelligence: The Efficiency to Support Triage
,
Acta medica Lituanica: Vol. 30 No. 1 (2023): Acta medica Lituanica
-
Gunda Petraitytė,
Eglė Preikšaitienė,
Violeta Mikštienė,
Genome Editing in Medicine: Tools and Challenges
,
Acta medica Lituanica: Vol. 28 No. 2 (2021): Acta medica Lituanica
-
Baiba Vilīte,
Eva Strīķe,
Katrīna Rutka,
Roberts Leibuss,
Pain management in intensive care unit patients after cardiac surgery with sternotomy approach
,
Acta medica Lituanica: Vol. 26 No. 1 (2019): Acta Medica Lituanica
-
Sohil Pothiawala,
Airway Management in the Emergency Department During Coronavirus Disease (COVID-19)
,
Acta medica Lituanica: Vol. 27 No. 2 (2020): Acta medica Lituanica
-
Jorgjia Bucaj,
Enkeleint A. Mechili,
Petros Galanis ,
Bruna Mersini ,
Sonila Nika,
Inis Hoxhaj ,
Stefano Likaj ,
Athina E. Patelarou ,
Evridiki Patelarou ,
Decreased Hospital Visits and Increased Mortality Rate in Emergency Department during the COVID-19 Pandemic: Evidence from Albania
,
Acta medica Lituanica: Vol. 29 No. 1 (2022): Acta medica Lituanica
-
Eglė Puncevičienė,
Justina Gaiževska ,
Rasa Sabaliauskaitė,
Kristina Šnipaitienė,
Lina Vencevičienė,
Dalius Vitkus,
Sonata Jarmalaitė,
Irena Butrimienė,
Analysis of Epigenetic Changes in Vitamin D Pathway Genes in Rheumatoid Arthritis Patients
,
Acta medica Lituanica: Vol. 29 No. 1 (2022): Acta medica Lituanica
-
Evelina Petruškevičiūtė,
Diana Bužinskienė,
Acute Diffuse Peritonitis Due to Spontaneous Rupture of an Infected Endometrioma: A Case Report
,
Acta medica Lituanica: Vol. 28 No. 2 (2021): Acta medica Lituanica