Familial hypercholesterolemia: case report

Year 2022, Volume: 2 Issue: 1, 23 - 26, 30.06.2022

Şerife Aleyna Yapıcı , Muhammet Adıgüzel , Deniz Kor

Abstract

Familial Hypercholesterolemia (FH) is an autosomal dominant genetic lipoprotein metabolism disorder with high LDL (low-density lipoprotein) levels in the serum, manifested by cholesterol accumulation in the skin and tissues, and increases the risk of early cardiovascular disease. If patients with hypercholesterolemia are treated early, the risk of future atherosclerosis can be significantly reduced. Xanthomas are visibly deformed cholesterol deposits that develop after prolonged exposure to high serum low-density lipoprotein cholesterol concentrations. In this article, a 17-year-old female patient with homozygous familial hypercholesterolemia with diffuse xanthomas was evaluated in the light of the literature. In laboratory examinations of our patient, plasma cholesterol levels were very high. There was no systemic disorder accompanying the skin lesions. When our case was diagnosed with homozygous familial hypercholesterolemia and treated regularly with diet, medication and lipid apheresis, it was observed that clinical and biochemical improvement was observed. In our case report, we wanted to emphasize once again that xanthomas can improve rapidly with effective treatment and surgery should not be performed.

Keywords

Hypercholesterolemia, Xanthoma, Homozygous Familial Hypercholesterolemia

Ailesel hiperkolesterolemi: olgu sunumu

Abstract

Ailesel Hiperkolesterolemi (AH), serumda yüksek LDL (low-density lipoprotein) düzeyleri görülen, deride ve dokularda kolesterol birikmesi ile kendini gösteren ve erken kardiyovasküler hastalık riskini arttıran otozomal dominant karakterde genetik bir lipoprotein metabolizması bozukluğudur. Hiperkolesterolemili hastalar erken dönemde tedavi edilirse, ileride gelişebilecek ateroskleroz riski ciddi derecede azaltılabilir. Ksantomlar, yüksek serum düşük yoğunluklu lipoprotein kolesterol konsantrasyonlarına uzun süre maruz kaldıktan sonra gelişen, gözle görülür şekilde deforme olan kolesterol birikintileridir. Bu makalede homozigot ailesel hiperkolesterolemili yaygın ksantomları olan 17 yaşında kız hasta literatür ışığında değerlendirildi. Hastamızın laboratuvar incelemelerinde plazma kolesterol düzeyleri çok yüksekti. Deri lezyonlarına eşlik eden sistemik bozukluk yoktu. Olgumuzun homozigot ailesel hiperkolesterolemi tanısı alıp diyet, ilaç ve lipit aferezi ile düzenli tedavi edildiğinde klinik ve biyokimyasal olarak düzeldiği görülmüştür. Olgu sunumumuzda ksantomların etkin tedavi ile hızla düzelebildiği, cerrahi yapılmaması gerektiği bir kez daha vurgulanmak istenmiştir.

Keywords

Hiperkolesterolemi, Ksantom, Homozigot Ailesel Hiperkolesterolemi

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