[Snow white small intestinal villi in hypobetalipoproteinemia].
In contrast to the severe clinical picture of abetalipoproteinemia patients with hypobetalipoproteinemia are often asymptomatic. We demonstrate a 52-years-old female patient with a white mucosa of the small intestine casually observed by endoscopy. The white appearance of the mucosa was limited to the villi. As demonstrated by light and transmission electron microscopy this was caused by fat loaded enterocytes similar to the picture of abetalipoproteinemia. Fasting serum lipids and apolipoproteins were only if the lower norm level for some parameters, but no increase of the serum lipids was observed after an oral fat load. Because of the missing symptoms, the typical histomorphology and laboratory findings the snow white mucosa of the small intestine is due by the hetocygote form of the autosomal dominant hypobetalipoproteinemia with fat loaded enterocytes.
Goerg
K J
KJ
Medizinische Klinik des Krankenhauses St. Josef, Wuppertal.
Borchard
F
F
Luley
C
C
Schubert
G E
GE
D001053:Apolipoproteins / Q000097:blood; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D016099:Endoscopy, Gastrointestinal; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood / Q000473:pathology*; D007413:Intestinal Mucosa / Q000473:pathology*; D008055:Lipids / Q000097:blood; D008854:Microscopy, Electron; D008875:Middle Aged; D010859:Pigmentation Disorders / Q000097:blood / Q000473:pathology*
D001053:Apolipoproteins; D008055:Lipids
Schneeweisse Dünndarmzotten bei Hypobetalipoproteinämie.