Familial hypercholesterolemia: case report

Yıl 2022, Cilt: 2 Sayı: 1, 23 - 26, 30.06.2022

Şerife Aleyna Yapıcı , Muhammet Adıgüzel , Deniz Kor

Öz

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.

Anahtar Kelimeler

Hypercholesterolemia, Xanthoma, Homozygous Familial Hypercholesterolemia

Ailesel hiperkolesterolemi: olgu sunumu

Öz

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.

Anahtar Kelimeler

Hiperkolesterolemi, Ksantom, Homozigot Ailesel Hiperkolesterolemi

Kaynakça

• Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Familial hypercholesterolaemia. Nat Rev Dis Primers 2017;7:170-93.
• Kavala M, Can B, Zindancı İ, Kocatürk E, Altıntaş S. Homozygote familial hypercholesterolemia (type IIa): A case presenting with cutaneous xanthomas. Türkiye Klinikleri J Dermatol 2007;17:53-5.
• Lee AP, William AN. Disorders of Lipoprotein Metabolism and Transport. In: Nelson Textbooks of Pediatrics, Ed: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, 21st Edition, Elsevier, USA, 2020,s.3368-71.
• İncecik F, Sangün Ö, Akçalı C, Güzelmansur İ. Ailesel hiperkolesterolemi. Göztepe Tıp Dergisi 2006;21:210-2.
• Kayıkçıoğlu M. Homozigot ailevi hiperkolesterolemi. Türk Kardiyoloji Derneği Arşivi 2014;42,(2):19-31.
• Cuchel M, Bruckert HN, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the consensus panel on hypercholesterolaemia of the european atherosclerosis society. Eur Heart J 2014;21:2146-57.
• Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011;12:2202-7.
• Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, et al. Autosomal recessive hypercholesterolemia and homozygous familial hypercholesterolemia: A phenotypic comparison. Atherosclerosis 2006;188:398-405.
• Kwiterowich PO Jr, Frederickson DS, Levy RI. Familial hypercholesterolemia (One from of familial type II hyperlipoproteinemia ): A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest 1974;53:1237-49.
• Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the national lipid association expert panel on familial hypercholesterolemia. J Clin Lipidol 2011;5:1-8.
• Hovingh GK, Davidson MH, Kastelein JJ, O’Connor AM. Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J 2013;34:962-71.
• Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJ. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas : A systematic review and meta-analysis. Atherosclerosis 2009;207:311-7.
• Wu R, Wong TY, Saw SM, Cajucom-Uy H, Rosman M, Aung T. Effect of corneal arcus on central corneal thickness, intraocular pressure, and primary open-angle glaucoma: the Singapore malay eye study. Arch Ophthalmol 2010;128:1455-61.
• Sinan ÜY, Sansoy V. Ailevi hiperkolesterolemi: Epidemiyoloji, genetik, tanı ve tarama. Türk Kardiyol Dern Arş 2014;42:1-9.
• Gagne C, Moorjani S, Brun D, Toussaint M, Lupien PJ. Heterozygous familial hypercholesterolemia relationship between plasma lipids, lipoproteins, clinical manifestations and ischemic heart disease in men and women. Atherosclerosis 1979;34:13-24.
• Kayıkçıoğlu M, Kısmalı E, Can L, Payzin S. Long-term follow-up in patients with homozygous familial hypercholesterolemia: 13-year experience of a university hospital lipid clinic. Turk Kardiyol Dern Ars 2014;42:599-611.
• Daniels SR, Benuck I, Christakis DA. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report. Pediatrics 2011;128:213-56.
• Page MM, Bell DA, Hooper AJ, Watts GF, Burnett JR. Lipo-protein apheresis and new therapies for severe familial hypercholesterolemia in adults and children. Best Pract Res Clin Endocrinol Metab 2014;28:387-403.
• Sunil B, Foster C, Wilson DP, Ashraf AP. Novel therapeutic targets and agents for pediatric dyslipidemia. Ther Adv Endocrinol Metab 2021;12:1–20.