Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Abdurrahman Akgün; Meral Bahar İster; Özlem Ünal; Esra Er; Pelin Teke Kısa; Hüseyin Bilgin; Merve Aslantaş; Hasan Onal; Ayse Cigdem Aktuglu Zeybek

Makale detayları

Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Yazarlar:

Abdurrahman Akgün | Meral Bahar İster | Özlem Ünal | Esra Er | Pelin Teke Kısa | Hüseyin Bilgin | Merve Aslantaş | Hasan Onal | Ayse Cigdem Aktuglu Zeybek

Yayıncı:

Dicle University

Ana Başlıklar:

Tıp Eğitimi | Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Dicle Tıp Dergisi Vol.52 Issue 2, pp.283-297

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001348135

pISSN:

1300-2945

Anahtar kelimeler:

Özet:

 Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia. Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia. Results: These cases from 6 centres comprised 50.8 males and 49.2 females. There was a history of hypercholesterolemia in the mothers of 43.5 of the cases and in the fathers of 53.2. At the time of diagnosis, 81.5 of the cases had no complaints, 3.2 had skin lesions and 3.2 had weight gain complaints. Mutations were detected in the LDLR gene in 95.2 of the cases, in the APOE gene in 3.2 and in the APOB gene in 1.6. Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.

 Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia. Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia. Results: These cases from 6 centres comprised 50.8 males and 49.2 females. There was a history of hypercholesterolemia in the mothers of 43.5 of the cases and in the fathers of 53.2. At the time of diagnosis, 81.5 of the cases had no complaints, 3.2 had skin lesions and 3.2 had weight gain complaints. Mutations were detected in the LDLR gene in 95.2 of the cases, in the APOE gene in 3.2 and in the APOB gene in 1.6. Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.

 Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia. Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia. Results: These cases from 6 centres comprised 50.8 males and 49.2 females. There was a history of hypercholesterolemia in the mothers of 43.5 of the cases and in the fathers of 53.2. At the time of diagnosis, 81.5 of the cases had no complaints, 3.2 had skin lesions and 3.2 had weight gain complaints. Mutations were detected in the LDLR gene in 95.2 of the cases, in the APOE gene in 3.2 and in the APOB gene in 1.6. Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.

 Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia. Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia. Results: These cases from 6 centres comprised 50.8 males and 49.2 females. There was a history of hypercholesterolemia in the mothers of 43.5 of the cases and in the fathers of 53.2. At the time of diagnosis, 81.5 of the cases had no complaints, 3.2 had skin lesions and 3.2 had weight gain complaints. Mutations were detected in the LDLR gene in 95.2 of the cases, in the APOE gene in 3.2 and in the APOB gene in 1.6. Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.

Makale detayları

Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Yazarlar:

Abdurrahman Akgün | Meral Bahar İster | Özlem Ünal | Esra Er | Pelin Teke Kısa | Hüseyin Bilgin | Merve Aslantaş | Hasan Onal | Ayse Cigdem Aktuglu Zeybek

Yayıncı:

Dicle University

Ana Başlıklar:

Tıp Eğitimi | Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Dicle Tıp Dergisi Vol.52 Issue 2, pp.283-297

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001348135

pISSN:

1300-2945

Familial hypercholesterolemia

LDL-cholesterol

Atherosclerosis

Lipoprotein apheresis

Sayı

Makale detayları

Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Yazarlar: Abdurrahman Akgün | Meral Bahar İster | Özlem Ünal | Esra Er | Pelin Teke Kısa | Hüseyin Bilgin | Merve Aslantaş | Hasan Onal | Ayse Cigdem Aktuglu Zeybek

Yayıncı: Dicle University

Ana Başlıklar: Tıp Eğitimi | Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi: Dicle Tıp Dergisi Vol.52 Issue 2, pp.283-297

Belge Tipi: Makale

Yayın Tarihi: 6/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001348135

pISSN: 1300-2945

Familial hypercholesterolemia

LDL-cholesterol

Atherosclerosis

Lipoprotein apheresis

Sayı

Yazarlar:

Abdurrahman Akgün | Meral Bahar İster | Özlem Ünal | Esra Er | Pelin Teke Kısa | Hüseyin Bilgin | Merve Aslantaş | Hasan Onal | Ayse Cigdem Aktuglu Zeybek

Yayıncı:

Dicle University

Ana Başlıklar:

Tıp Eğitimi | Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Dicle Tıp Dergisi Vol.52 Issue 2, pp.283-297

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001348135

pISSN:

1300-2945