Familial Spinal Xanthomatosis with Sitosterolemia.

Hidaka, Hideki; Yasuda, Hitoshi; Kobayashi, Masashi; Hatanaka, I; Takahashi, Masayuki; Matsumoto, Keiji; Itoh, Ryuta; Okabe, Hidetoshi; Kikkawa, Ryuichi; Shigeta, Yukio

doi:10.2169/internalmedicine.31.1038

Cited by 7 publications

(3 citation statements)

References 11 publications

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“…However, one month after our diagnosis, we reached the diagnosis of sitosterolemia as we suspected the disease and examined its presence using high performance liquid chromatography. This is a disease that is never diagnosed plant sterol was stored in the dentate ligaments of the spine (5). Differential diagnoses include other lipid storage diseases such as familial hypercholesterolemia, familial defective apoB lOO, and pseudo familial hypercholesterolemia.…”

Section: Case Reportmentioning

confidence: 99%

A 19-year-old Man with Myocardial Infarction and Sitosterolemia

et al. 2003

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This is a case report of a 19-year-old man who presented with acute myocardial infarction with obstruction of one coronary artery and rapid progression to three vessels in 8 months. He was proved to have sitosterolemia, a rare hereditary disease with plant sterol storing, resulting in juvenile coronary artery disease. Atherosclerotic complications can be preventable by administration of bile acid-binding resin, after the correct diagnosis is made. We introduce this disease with a review of the literature. (Internal Medicine 42: 591-594, 2003)

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Section: Case Reportmentioning

confidence: 99%

A 19-year-old Man with Myocardial Infarction and Sitosterolemia

et al. 2003

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“…Sitosterolemia patients develop tendon and tuberous xanthomas, hemolytic episodes, arthralgias and arthritis, and premature coronary and aortic atherosclerosis leading to cardiac fatalities [5,7,[13][14][15][16]. Sitosterolemia shares several clinical characteristics with the wellcharacterized homozygous familial hypercholesterolemia (FH), such as the development of tendon xanthomas in the first 10 years of life and the development premature atherosclerosis [6].…”

Section: Clinical Features Of Sitosterolemiamentioning

confidence: 99%

Genetic basis of sitosterolemia

Lee

Patel

2001

Current Opinion in Lipidology

172

114

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The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately 200-400 mg of non-cholesterol sterols, of which plant sterols are the major constituents. Approximately 50-60% of dietary cholesterol is absorbed and retained by the normal human body, but less than 1% of the non-cholesterol sterols are retained. There thus exists a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols. In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorb and retain not only cholesterol but also all other sterols, including plant and shellfish sterols from the intestine. Consequently, patients with this disease have very high levels of plant sterols in the plasma, and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. The STSL locus has been mapped to human chromosome 2p21. Mutations in two tandem ABC genes, ABCG5 and ABCG8, encoding sterolin-1 and -2, respectively, are now known to be mutant in sitosterolemia. The identification of these genes should now lead to a better understanding of the molecular mechanism(s) governing the highly selective absorption and retention of cholesterol by the body. Indeed, it is the very existence of this disease that has given credence to the hypothesis that there is a molecular pathway that regulates dietary cholesterol absorption and sterol excretion by the body.

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“…Sitosterolemia is caused by a mutation in one of two ATP-binding cassette (ABC) transporters, ABCG5 or ABCG8, responsible for pumping sterols (plant sterols and cholesterol) from the brush border of enterocytes into the intestinal lumen and from the liver into bile (2)(3)(4)(5)(6). Patients with this disease present with hyperabsorption and diminished biliary excretion of sterols leading to tendinous and ⁄ or tuberous xanthomas, aortic stenosis, premature atherosclerosis and coronary heart disease (7)(8)(9)(10)(11)(12). Additional clinical features of sitosterolemia include the occurrence of haematolysis, presumably caused by the increased osmotic fragility of erythrocytes, anaemia, thrombocytopenia, as well as hepatocellular injury (7,13,14).…”

Section: Introductionmentioning

confidence: 99%