Sitosterolemia

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.

Atherosclerosis

A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.


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PMID (PMCID)
28771437
 FEMALE
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
Yagasaki H, Nakane T, Toda T, Kobayashi K, Aoyama K, Ichikawa T, Sugita K.
J Pediatr Endocrinol Metab. 2017;30(9):1007-1011.
Sitosterolemia is a unique disorder in which it is difficult to avoid premature atherosclerosis because of high sitosterol levels.
27401767
 FEMALE Infant
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W.
J Dermatol. 2016;43(11):1340-1344.
Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood.
24657386
 FEMALE Adult
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.
Hansel B, Carrie A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E.
Atherosclerosis. 2014;234(1):162-8.
Phytosterolemia is believed to be responsible for severe premature atherosclerosis.
24657386
 FEMALE Adult
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.
Hansel B, Carrie A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E.
Atherosclerosis. 2014;234(1):162-8.
The clinical and biological characteristics of our patients, considered together with reports of cases which equally lack CVD, support the contention that the premature atherosclerosis associated with phytosterolemia in some patients may be due at least in part to mechanisms independent of elevated circulating phytosterol levels.
20543520
 MIXED_SAMPLE Young Adult
Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism.
Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S.
J Atheroscler Thromb. 2010;17(9):891-900.
In the current review, we discuss the current therapy for patients with sitosterolemia and present two Japanese adolescent patients with this disease, one of whom underwent percutaneous coronary intervention for accelerated coronary atherosclerosis.
19111681
 FEMALE Adult
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.
Togo M, Hashimoto Y, Iso-O N, Kurano M, Hara M, Kadowaki T, Koike K, Tsukamoto K.
Clin Chim Acta. 2009;401(1-2):165-9.
Phytosterolemia is one of the genetic disorders causing hypercholesterolemia and atherosclerosis together with the accumulation of plant sterol in plasma and tissues.
2251034
 MALE Child
Response to diet and cholestyramine in a patient with sitosterolemia.
Belamarich PF, Deckelbaum RJ, Starc TJ, Dobrin BE, Tint GS, Salen G.
Pediatrics. 1990;86(6):977-81.
The rapid and sustained lowering of plasma cholesterol and regression of xanthomata after treatment with diet and cholestyramine suggest that sitosterolemia is a treatable cause of premature atherosclerosis.
4067433
 MIXED_SAMPLE Adult
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.
Salen G, Horak I, Rothkopf M, Cohen JL, Speck J, Tint GS, Shore V, Dayal B, Chen T, Shefer S.
J Lipid Res. 1985;26(9):1126-33.
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal atherosclerosis who died accidently.
4067433
 MIXED_SAMPLE Adult
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.
Salen G, Horak I, Rothkopf M, Cohen JL, Speck J, Tint GS, Shore V, Dayal B, Chen T, Shefer S.
J Lipid Res. 1985;26(9):1126-33.
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal atherosclerosis who died accidently.
4067433
 MIXED_SAMPLE Adult
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.
Salen G, Horak I, Rothkopf M, Cohen JL, Speck J, Tint GS, Shore V, Dayal B, Chen T, Shefer S.
J Lipid Res. 1985;26(9):1126-33.
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.