Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Filiz EKİCİ; Salih ÖZÇOBANOĞLU; Fırat KARDELEN

Makale detayları

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Yazarlar:

Filiz EKİCİ | Salih ÖZÇOBANOĞLU | Fırat KARDELEN

Yayıncı:

Trakya University

Dergi:

Balkan Medical Journal 2018 Vol.35 Issue 2, pp.208-211

Belge Tipi:

Makale

Yayın Tarihi:

2/2018

Belge Dili:

Türkçe

Document ID (Org No.):

2000758883

Sıklık:

İki Aylık

pISSN:

2146-3123

Özet:

 

Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality. Patients with homozygous familial hypercholesterolemia have an increased risk of cardiovascular complication that usually occurs in the first decade of life. Here, we report a 12-year-old girl with an unpredicted presentation for coronary artery disease and found to have homozygous familial hypercholesterolemia.Case Report: A 12-year-old girl was admitted to our unit with syncope. Chest X-ray showed bilateral diffuse pneumonic consolidation and mild cardiomegaly. We detected stable ST depression by electrocardiography. Echocardiography showed normal systolic functions. Troponin-1 levels were high (66 mcg/dL, upper limit: 0.04 mcg/dL). Influenza A virus DNA was detected by the respiratory viral panel. After her successful treatment for acute pneumonia and myocarditis due to Influenza A virus, her syncope attacks persisted. Marked ST elevation was observed during exercise electrocardiography. Coronary angiography showed severe occlusions in the coronary arteries. High serum levels of total cholesterol (756 mg/dL) and low-density lipoprotein-C (556 mg/dL) were noticed. She had no tendon xanthomas. Medical histories revealed that her family members were diagnosed with heterozygous familial hypercholesterolemia. A coronary bypass surgery was performed. Statin and ezetimibe treatments were started. We also planned lipid apheresis.Conclusion: Children with homozygous familial hypercholesterolemia may present with symptoms of premature coronary heart disease requiring a routine lipid test and careful anamnesis.

Makale detayları

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Yazarlar: Filiz EKİCİ | Salih ÖZÇOBANOĞLU | Fırat KARDELEN

Yayıncı: Trakya University

Dergi: Balkan Medical Journal 2018 Vol.35 Issue 2, pp.208-211

Belge Tipi: Makale

Yayın Tarihi: 2/2018

Belge Dili: Türkçe

Document ID (Org No.): 2000758883

Sıklık: İki Aylık

pISSN: 2146-3123

Sayı

Yazarlar:

Filiz EKİCİ | Salih ÖZÇOBANOĞLU | Fırat KARDELEN

Yayıncı:

Trakya University

Dergi:

Balkan Medical Journal 2018 Vol.35 Issue 2, pp.208-211

Belge Tipi:

Makale

Yayın Tarihi:

2/2018

Belge Dili:

Türkçe

Document ID (Org No.):

2000758883

Sıklık:

İki Aylık

pISSN:

2146-3123