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Review
. 2021 Aug 1;28(8):791-801.
doi: 10.5551/jat.RV17052. Epub 2021 Apr 28.

Diagnosis and Management of Sitosterolemia 2021

Hayato Tada  1 , Akihiro Nomura  1 , Masatsune Ogura  2 , Katsunori Ikewaki  3 , Yasushi Ishigaki  4 , Kyoko Inagaki  5 , Kazuhisa Tsukamoto  6 , Kazushige Dobashi  7 , Kimitoshi Nakamura  8 , Mika Hori  9 , Kota Matsuki  10 , Shizuya Yamashita  11 , Shinji Yokoyama  12 , Masa-Aki Kawashiri  1 , Mariko Harada-Shiba  13
Affiliations
Review

Diagnosis and Management of Sitosterolemia 2021

Hayato Tada et al. J Atheroscler Thromb. .

Abstract

Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. However, accumulated clinical data as well as genetics suggest the possibility of a much higher prevalence. Its clinical manifestations resemble those observed in patients with familial hypercholesterolemia (FH), including tendon xanthomas, hyper LDL-cholesterolemia, and premature coronary atherosclerosis. We provide an overview of this recessive genetic disease, diagnostic as well as therapeutic tips, and the latest diagnostic criteria in Japan.

Keywords: ABCG5; ABCG8; Familial hypercholesterolemia; Sitosterolemia.

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Figures

Fig.1. Schema of sterol metabolism focusing on ABCG5/8 and NPC1L1
Fig.1. Schema of sterol metabolism focusing on ABCG5/8 and NPC1L1
In the intestine, plant sterols and cholesterol are absorbed via NPC1L1, while they are excreted via ABCG5/8. The same pattern is observed in hepatocytes.
Fig.2. Xanthomas in patients with dyslipidemias
Fig.2. Xanthomas in patients with dyslipidemias
(A) Systemic xanthomas in a patient with homozygous FH (3-year-old boy) (B) X-ray of Achilles’ tendon in a patient with ARH (67-year-male) (C) Achilles’ tendon xanthomas in a patient with ARH (67-year-male) (D) X-ray of Achilles’ tendon in a patient with CTX (63-year-male) (E) Achilles’ tendon xanthomas in a patient with CTX (63-year-male) (F) Xanthomas at the ankle in a patient with sitosterolemia (1-year-old girl) (G) Xanthomas at the wrist in a patient with sitosterolemia (1-year-old girl)
See this image and copyright information in PMC

References

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