THREE-YEAR-OLD BOY – A HOMOZYGOTE FOR FAMILIAR HYPERCHOLESTEROLEMIA
Autori:
Miroslav Dumić, Anita Špehar Uroić, Igor Francetić, Zvonimir Puretić, Danica Matišić, Petar Kes, Martina Mikecin, Željko Reiner
Sažetak
Sažetak. Homozigotni oblik porodične hiperkolesterolemije (PH) uzrokovan mutacijama receptora za lipoproteine male gustoće (low density lipoprotein – LDL) rijetka je autosomno-dominantno nasljedna bolest s incidencijom oko 1/1000000. Karakterizirana je izrazitim povišenjem razine ukupnog i LDL-kolesterola te pojavom kožnih ksantoma već u male djece. Bolesnici su životno ugroženi od ranog djetinjstva zbog preuranjenog razvoja ateroskleroze i pojave koronarne bolesti, a njihovo je liječenje velik problem, posebno u našim uvjetima. Prikazujemo trogodišnjeg dječaka s kliničkim i laboratorijskim osobitostima homozigotnog oblika autosomno-dominantne PH (tuberozni ksantomi i vrlo visoka razina ukupnog i LDL-kolesterola). Heterozigotna hiperkolesterolemija nađena je u oba roditelja te u nekoliko članova šire obitelji. U dječaka se provodilo liječenje simvastatinom, a zatim i atorvastatinom, no bez značajnijeg uspjeha. Planira se započeti liječenje LDL-aferezom koja predstavlja terapiju izbora u djece homozigota za PH.
Summary
Summary. Homozygous familial hypercholesterolemia (FH) is a rare autosomal dominant disorder caused by mutations in the low-density-lipoprotein (LDL) receptor gene. It occurs with a frequency of approximately 1 per million persons worldwide. Clinically, homozygous FH is associated with extremely elevated levels of LDL cholesterol and cutaneous xanthomas that develop in early childhood. These children are at risk of extremely early coronary events and death from myocardial infarction caused by premature generalized atherosclerosis. Their medical treatment is very complex, associated with various problems and complications. We describe a 3-year-old boy with clinical signs of homozygous FH (elevated LDL-cholesterol levels and xanthomas). Heterozygous hypercholesterolemia was found in his parents and some other family members. The boy has been treated with simvastatin and atorvastatin, but without reaching the treatment goals. LDL apheresis is planned as the treatment of choice for homozygous children with FH.
