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.

Xanthomatosis

The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


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PMID (PMCID)
16697747
 FEMALE Child
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
Salen G, Starc T, Sisk CM, Patel SB.
Gastroenterology. 2006;130(6):1853-7.
Ezetimibe added to ongoing low-dose cholestyramine therapy led to a marked improvement in plasma sterol concentrations, complete regression of xanthomatosis, resolution of carotid bruits, and improvement in cardiac murmur in a young female patient with sitosterolemia.
16697747
 FEMALE Child
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
Salen G, Starc T, Sisk CM, Patel SB.
Gastroenterology. 2006;130(6):1853-7.
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
16697747
 FEMALE Child
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
Salen G, Starc T, Sisk CM, Patel SB.
Gastroenterology. 2006;130(6):1853-7.
We examined the effects of the intestinal cholesterol/phytosterol transporter inhibitor ezetimibe added to cholestyramine in a young female patient with sitosterolemia and associated xanthomatosis.
16697747
 FEMALE Child
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
Salen G, Starc T, Sisk CM, Patel SB.
Gastroenterology. 2006;130(6):1853-7.
Sitosterolemia is a rare, recessively inherited disorder characterized by increased absorption and delayed removal of noncholesterol sterols, which is associated with accelerated atherosclerosis, premature coronary artery disease, hemolysis, and xanthomatosis.
16331855
 MIXED_SAMPLE Middle Aged
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.
Connor WE, Lin DS, Pappu AS, Frohlich J, Gerhard G.
Lipids. 2005;40(9):919-23.
However, its effects on the sitostanol concentrations in the blood and tissues are relatively unknown, especially in patients with sitosterolemia and xanthomatosis.
16331855
 MIXED_SAMPLE Middle Aged
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.
Connor WE, Lin DS, Pappu AS, Frohlich J, Gerhard G.
Lipids. 2005;40(9):919-23.
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.
16331855
 MIXED_SAMPLE Middle Aged
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.
Connor WE, Lin DS, Pappu AS, Frohlich J, Gerhard G.
Lipids. 2005;40(9):919-23.
Our data indicate that dietary sitostanol and campestanol are absorbed by patients with sitosterolemia and xanthomatosis and also by rats.
9152615
 FEMALE Child
beta-Sitosterolemia with generalized eruptive xanthomatosis.
Hidaka H, Sugiura H, Nakamura T, Kojima H, Fujita M, Sugie N, Okabe H, Nishio Y, Maegawa H, Kashiwagi A, Kikkawa R.
Endocr J. 1997;44(1):59-64.
The clinical features of the first case of a patient with sitosterolemia and generalized eruptive xanthomatosis are described.
1477463
 FEMALE Middle Aged
Familial spinal xanthomatosis with sitosterolemia.
Hidaka H, Yasuda H, Kobayashi M, Hatanaka I, Takahashi M, Matsumoto K, Itoh R, Okabe H, Kikkawa R, Shigeta Y.
Intern Med. 1992;31(8):1038-42.
Familial spinal xanthomatosis with sitosterolemia.
1477463
 FEMALE Middle Aged
Familial spinal xanthomatosis with sitosterolemia.
Hidaka H, Yasuda H, Kobayashi M, Hatanaka I, Takahashi M, Matsumoto K, Itoh R, Okabe H, Kikkawa R, Shigeta Y.
Intern Med. 1992;31(8):1038-42.
The patient also showed marked tendon xanthomas and analysis of sterol composition in both plasma and the xanthoma established the diagnosis of the rare inherited metabolic disease, sitosterolemia and xanthomatosis.
1377859
 FEMALE Middle Aged
Immunohistochemical analysis of spinal intradural xanthomatosis developed in a patient with phytosterolemia.
Okabe H, Ishizawa M, Matsumoto K, Ogata M, Nishioka J, Hukuda S, Hidaka H, Yasuda H, Ochi Y.
Acta Neuropathol. 1992;83(5):554-8.
Immunohistochemical analysis of spinal intradural xanthomatosis developed in a patient with phytosterolemia.
1576118
 FEMALE Adult
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia.
Salen G, Tint GS, Shefer S, Shore V, Nguyen L.
Arterioscler Thromb. 1992;12(5):563-8.
Using plasma isotope-kinetic methods, we measured the absorption and turnover rates of cholesterol and sitosterol (24-ethylcholesterol) in two obligate heterozygotes (parents) and their homozygous daughter with sitosterolemia with xanthomatosis.
2325562
 MIXED_SAMPLE Adult
Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function.
Nguyen LB, Salen G, Shefer S, Tint GS, Shore V, Ness GC.
Metabolism. 1990;39(4):436-43.
We investigated the mechanism for reduced cholesterol biosynthesis in sitosterolemia with xanthomatosis.
2380636
 MIXED_SAMPLE Child
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.
Hidaka H, Nakamura T, Aoki T, Kojima H, Nakajima Y, Kosugi K, Hatanaka I, Harada M, Kobayashi M, Tamura A, et al..
J Lipid Res. 1990;31(5):881-8.
This report presents the clinical features of the patients with sitosterolemia and xanthomatosis and also demonstrates that heterozygotes with this disorder have increased plasma levels of plant sterols as well as cholestanol, and suggests that this rare disease might be inherited as an autosomal co-dominant trait in certain cases.
2380636
 MIXED_SAMPLE Child
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.
Hidaka H, Nakamura T, Aoki T, Kojima H, Nakajima Y, Kosugi K, Hatanaka I, Harada M, Kobayashi M, Tamura A, et al..
J Lipid Res. 1990;31(5):881-8.
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.
2241122
 FEMALE Middle Aged
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y.
Ann Neurol. 1990;28(3):390-3.
Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
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.
These results indicate that cholesterol, plant sterols, and 5 alpha-stanols are deposited prematurely and are associated with accelerated atherosclerosis in subjects with sitosterolemia with xanthomatosis.
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.
7204688
 MALE
Phytosterolemia and type IIa hyperlipoproteinemia with tuberous xanthomas.
Matsuo I, Yoshino K, Ozawa A, Ohkido M.
J Am Acad Dermatol. 1981;4(1):47-9.
The plant sterols, beta-sitosterol, campesterol, and stigmasterol, were identified in plasma and the xanthomas; to our knowledge, this is the first case of phytosterolemia and xanthomatosis in a Japanese.