LETTER TO THE EDITORS

Rebuttal to “ezetimibe treatment should be considered
for patients with sitosterolemia”

Elif Erkan

Received: 14 April 2014 /Revised: 25 April 2014 /Accepted: 29 April 2014 /Published online: 17 May 2014
# IPNA 2014

We have presented an adolescent of Amish descent with
atherosclerotic renal artery stenosis as a cause for hyperten-
sion. He was subsequently diagnosed with sitosterolemia, a
rare autosomal recessive genetic disorder characterized by the
retention of both plant sterols and cholesterol in affected
individuals. Determination of his serum sterol profile by gas
chromatography revealed 91.2 % cholesterol (normal >99 %),
with elevated plant sterol levels (normal <1 %) at 2.7 %
campesterol, 5.6 % beta-sitosterol and 0.5 % stigmasterol;
these findings were consistent with sitosterolemia [1]. His
genetic testing has not yet been completed, but the clinical
picture of the patient and elevated serum plant sterols support
the diagnosis of sitosterolemia. The patient was initially
placed on atorvastatin. After he was diagnosed with
sitosterolemia he was started on ezetimibe and resin colestid.
We agree with Hu et al. that ezetimibe is the drug of choice for
sitosterolemia [2]. Ezetimibe binds directly to Niemen Pick
C1-like 1 (NPC1L1) and inhibits absorption of sitosterols
from the intestinal epithelium. In a multicenter study 37
patients were randomized to receive placebo (n=10) versus
ezetimibe (n=30) for 8 weeks. Ezetimibe treatment resulted

in a significant reduction in sitosterol and campesterol
levels [3].

We believe a multidrug approach is warranted to treat
sitosterolemia in order to prevent premature atherosclerotic
cardiovascular disease. Although there is no doubt that
ezetimibe is beneficial for patients with sitosterolemia, close
monitoring for future side effects is warranted particularly in
children, considering their longer life span.

References

1. Webb TN, Ramratnam M, Pacella J, Erkan E (2014) Atherosclerotic
renal artery stenosis as a cause of hypertension in an adolescent patient.
Pediatr Nephrol. doi:10.1007/s00467-014-2774-y

2. Hu M, Tomlinson B (2014) Ezetimibe treatment should be considered
for patients with sitosterolemia. Pediatr Nephrol. doi:10.1007/s00467-
014-2843-2

3. Salen G, von Bergmann K, Lutjohann D, Kwiterovich P, Kane J, Patel
SB, Musliner T, Stein P, Musser B, and the Multicenter Sitosterolemia
Study Group (2004) Ezetimibe effectively reduces plasma plant sterols
in patients with sitosterolemia. Circulation 109:966–971

E. Erkan (*)
Pediatrics, Division of Nephrology, Cincinnati Children’s Hospital,
Cincinnati, OH, USA
e-mail: Elif.Erkan@cchmc.org

Pediatr Nephrol (2014) 29:1471
DOI 10.1007/s00467-014-2844-1

http://dx.doi.org/10.1007/s00467-014-2774-y
http://dx.doi.org/10.1007/s00467-014-2843-2
http://dx.doi.org/10.1007/s00467-014-2843-2

	Rebuttal to “ezetimibe treatment should be considered for patients with sitosterolemia”
	References