Images in Clinical Medicine
Phytosterolemia and Xanthomatosis
N Engl J Med 2003; 349:51July 3, 2003
- Article
A 17-year-old girl presented with multiple xanthomas of the hands (Panel A) and the Achilles tendons, as well as a family history of vascular disease. Familial hypercholesterolemia was suspected, but the plasma cholesterol level was only mildly elevated. The levels of plant sterols in the plasma as measured with gas chromatography were 950 μmol of sitosterol per liter (normal value, <16) and 378 μmol of campesterol per liter (normal value, <24). Phytosterolemia with xanthomatosis was diagnosed. Phytosterolemia is an autosomal recessive disorder characterized by increased intestinal absorption of dietary sterols (not only cholesterol, but also plant sterols) and decreased biliary excretion of sterols. Consequently, large amounts of plant sterols accumulate in most tissues, and xanthomas and premature cardiovascular disease develop. Mutations in the genes encoding the family of ATP-binding cassette transporters (ABCG5 and ABCG8), which pump sterols out of intestinal cells in the lumen of the gut, have recently been shown to be involved in causing phytosterolemia. The patient was told to follow a diet low in plant fats (margarines), nuts, chocolate, and seeds. In addition, bile acid resins were prescribed. Although the patient's plasma levels of plant sterols remained markedly elevated, her tendon xanthomas diminished markedly, as shown in photographs taken five years later (Panel B).
Anton F. Stalenhoef, M.D., Ph.D.
University Medical Center Nijmegen, Nijmegen 6500 HB, the Netherlands- Citing Articles (2)
Citing Articles
1
Günther Silbernagel, Winfried März. (2008) Plant sterols: cardiovascular risk factors? 1. LaboratoriumsMedizin 32:4, ---
CrossRef2
Günther Silbernagel, Winfried März. (2008) Pflanzliche Sterole: Risikofaktoren für kardiovaskuläre Erkrankungen? / Plant sterols: Cardiovascular risk factors?. LaboratoriumsMedizin 32:4, 209-218
CrossRef
