Sitosterolemia with Orbital Xanthogranulomas ( 2 фото )

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A 50-year-old woman presented to the plastic surgery clinic with a 5-year history of masses under her eyes. On physical examination, firm, yellow plaques were seen in the infraorbital regions (Panel A). Laboratory studies were notable for thrombocytopenia and very high levels of low-density lipoprotein cholesterol. A peripheral-blood smear showed stomatocytes (Panel B, black arrows) and large platelets (Panel B, orange arrows). Findings from a biopsy of one of the periorbital masses were consistent with a xanthogranuloma. Owing to concern about a lipid disorder, serum plant-sterol levels were measured. The sitosterol level was 287 μmol per liter (reference value, <15), and the campesterol level was 194 μmol per liter (reference value, <10). Compound heterozygosity for variants in ABCG8 was identified on genetic sequencing. A diagnosis of sitosterolemia was made. Sitosterolemia is an inherited lipid disorder that results in increased intestinal absorption and decreased liver excretion of plant sterols. It typically manifests with xanthomas on extensor tendons and premature atherosclerosis, which were not present in this case. Hematologic abnormalities may also be present as a result of the accumulation of plant sterols in the membranes of platelets and erythrocytes. Treatment with a low-plant-sterol diet and ezetimibe was initiated. At the 7-month follow-up, the levels of plant sterols had decreased and the xanthogranulomas had abated (Panel C).

Mingkun Zhan, M.D. , and Taosheng Huang, M.D., Ph.D.
Published December 11, 2024
N Engl J Med 2024;391: e60
DOI: 10.1056/NEJMicm2406958
VOL. 391 NO. 23


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