HYPOPLASIA OF THE ABDOMINAL-AORTA IN A CLINICALLY ASYMPTOMATIC 13 YEAR-OLD GIRL WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Homozygous familial hypercholesterolemia is associated with premature atherosclerosis and early cardiovascular death if untreated. In an asy mptomatic 13-year-old girl we discovered an extensive hypoplasia of th e abdominal aorta and the Aa, iliacae, a combination which so far has not been described, that has not been reported before. The vascular hy poplasia was asymptomatic. Angiography additionally showed severe athe rosclerosis of the Aa. coronariae and Aa. subclaviae. After 13 months of low-density-lipoprotein(LDL)-apheresis angiographically there was n o pregression, but even slight improvement of vascular the disease. Di scussion: Since severe atheromatous changes of system ic arteries may be missed by clinical examination, we strongly recommend complete imag ing of all major systemic arteries in children with homozygous familia l hypercholesterinemia. LDL-apheresis is the treatment of choice in th ese patients.