Familyal homozigot hiperkolesterolemi tip IIA: Olgu sunumu ve literatürün gözden geçirilmesi

Familial homozygous hypercholesterolemia type IIA: Case report and review of the literature

Özet

Homozigot ailevi familyal hiperkolesterolemi nadir bir hastaMktir. Temel patoloji LDL reseptor defekti veya yok-tugudur. Plazmada asm .miktarda LDL birikimi ortaya ciknl&kta ve oliimcill koroner arter patolojileri He so-nuclanmaktadir. Diz, dirsek ve asil tendonundaki sanmtirak ksantomlar nedeni ile basvuran 21 yasmdaki er-kek hastada yapilan rutin tetkiklerinde total kolesterol 830 mg/dl ve LDL kolesterol 782 mg/dl olarak tesbit edil-mesi ilzerine aile taramasi yapildi. Anne, baba, 3 erkek kardes ve vakanin kizvnda total kolesterol degerleri 239-426 mg/dl arasinda; LDL kolesterol ise 178-352 mg/dl arsinda degi§iyordu. Vakanin EKG'sinde yaygm an¬terior iskemi bulunmasi ilzerine yapilan koroner anjiografide sol ana koroner arterin tamamen tikah, diger koroner arterlerin ise buyilk b'lciXde daralmis oldugu goruldil. Vakanm 23 ya§mdaki kiz kardesinin miyokard enfarktiXsunden vefat ettigi ogrenildi. Aile anamnezi olmasi, total kolesterolun 400 mg/dl uzerinde bulunmasi ve ksantomlan ile vakamiz homozigot, diger aile uyeleri ise heterozigot ailevi familyal hiperkolesterolemi ola¬rak kabul edildi. Hastaya diyet, statin ve resin grubu; aileye diyet ve statin grubu antilipidemik tedavi basla-nildi. Nadir gdrulen birhastahk olmasi nedeni ile vakayi ve aileyi sunmayi uygun gordu'k.

Abstract

Homozygous familial hypercholesterolemia is a rare disease. Basic pathology is absence or deficiency of LDL re¬ceptors. Excess accumulation of LDL in plasma occurs and results in lethal coronary artery pathologies. Twentyone years-old male patient applied with yellowish xanthomas over knees, elbows and achilles tendons.: Routine biochemical investigations revealed a total cholesterol level of 830 mg/dl and LDL cholesterol level of 782 mg/dl. Biochemical investigation of other family members revealed total cholesterol values between 239-426 mg/dl and LDL cholesterol values between 178-352 mg/dl in mother, father, 3 brothers and daughter of pati¬ents. Coronary angiography was performed due to presence of diffuse anterior ischemia in ECG. Left main co¬ronary artery was completely occluded and other coronaries were significantly narrowed. Sister of patient had died of myocardial infarct at 23 years of age. The patient was considered as homozygous familial hypercholes¬terolemia due to presence of family history, total cholesterol levels above 400 mg/dl, and xanthomas, and other family members were considered as heterozygous. Proper diet and statin and resin group antilipidemic drugs were prescribed to patient and statin group antilipidemic drugs were prescribed to other family members. We considered worthful to present the case and family since was a rare disease.