Karın Ağrısı ile Prezente Olan Familyal Hipobetalipoproteinemi Olgu Sunumu
Özet
Abetalipoproteinemi; nadir görülen serum lipit değerlerinin düşüklüğü ile karakterize çocukluk çağında büyüme gelişme geriliği, steatore semptomları ile karşımıza çıkmakta olup, yetişkin dönemde ise hepatosetatoz, nörolojik semptomlar (ataksi), kanama diatezi ve malabsorbsiyon bulguları ile karakterize genetik geçişli bir hastalıktır. Hastaların taşıdığı genetik mutasyona göre hastalık şiddeti değişkenlik göstermektedir.22 yaşında karın ağrısı ve ishal şikayeti ile prezente olan olgumuz yapılan tetkiklerinde serum total kolesterol ve LDL kolesterol seviyeleri düşük saptanmış olup genetik tetkikleri incelenerek Familyal hipobetalipoproteinemi (FBHL) tanısı almıştır. Nadir görülen FHBL hastalığının klinik özelliklerinin taşıyan olgumuzun literatüre katkı sağlayacağını düşünmekteyiz.
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