WHITE SMALL-INTESTINAL VILLI IN HYPOBETAL IPOPROTEINEMIA

In contrast to the severe clinical picture of abetalipoproteinemia pat ients with hypobetalipoproteinemia are often asymptomatic. We demonstr ate a 52-years-old female patient with a white mucosa of the small int estine casually observed by endoscopy. The white appearance of the muc osa was limited to the villi. As demonstrated by light and transmissio n electron microscopy this was caused by fat loaded enterocytes simila r to the picture of abetalipoproteinemia. Fasting serum lipids and apo lipoproteins were only in the lower norm level for some parameters, bu t no;increase of the serum lipids was observed after an oral fat load. Because of the missing symptoms, the typical histomorphology and labo ratory findings the snow white mucosa of the small intestine is due by the hetocygote form of the autosomal dominant hypobetalipoproteinemia with fat loaded enterocytes.