Type of II/A familial hyperlipoproteinaemias are inherited autosomal disorders with incomplete penetrance. The manifestation of the homozygous form is 1:1,000,000. Two cases of homozygous form of familial hypercholesterolemia were confirmed in childhood in Hungary. Authors present a currently 28 years old young man whose valvular aortic stenosis discovered at age of two. In 1989 patient was examined due to the xanthomatous skin alterations; a familial hyercholesterolemia was diagnosed. The extended examination of lipid metabolism revealed normal level of receptors; however its function were decreased. His aortic stenosis was operated at Munich (Germany) in 1994, followed by regular Heparin induced Extracorporeal LDL-cholesterol aPheresis (H.E.L.P.) and oral statin treatment. He has been on this combined treatment from 9 years of age. Patient has no sign of any cardiovascular disease.
A currently 15 years old girl was examined first at 7 years of age due to the granulomatous and unusual xanthomatous tendon lesions. The extended examination of lipid metabolism confirmed the homozygous form of familial hypercholesterolemia. Her treatment was started with cholesterol plasmapheresis using H.E.L.P. system combined with ezetimibe and rosuvastatin therapies. She is on this combined treatment without any sign of cardiovascular disease.
Familial hypercholesterolemias represent an important group of diseases responsible for significant cardiovascular morbidity and mortality. Sustained elevation of serum cholesterol levels lead to early onset of acquired atherosclerotic heart disease. Authors consider worthwhile to present these cases due to the young age of the patients, the unusual presentations of the disease and the long term successful therapy by H.E.L.P.