Normocholesterolemic Xanthomatosis

Parker, F.L.

doi:10.1001/archderm.1986.01660230045008

Cited by 64 publications

(41 citation statements)

References 3 publications

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“…Although, elevation in the mean cholesterol or low-density lipoprotein cholesterol (LDL-C) levels has been reported, XP can also be seen in patients with normal lipid levels 8 9. In the latter group, reduced high-density lipoprotein cholesterol (HDL-C), altered lipoprotein content or structure have been implicated 9 10.…”

Section: Introductionmentioning

confidence: 99%

Xanthelasma palpebrarum: a marker of premature atherosclerosis (risk of atherosclerosis in xanthelasma)

Pandhi

Gupta²,

Singal³

et al. 2012

Postgraduate Medical Journal

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Section: Introductionmentioning

confidence: 99%

Xanthelasma palpebrarum: a marker of premature atherosclerosis (risk of atherosclerosis in xanthelasma)

Pandhi

Gupta²,

Singal³

et al. 2012

Postgraduate Medical Journal

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“…Xanthomas can also occur in normolipemic patients, although rarely, with the exception of lipid deposits limited to the palpebral area, the so-called xanthelasma. 1 Xanthoma lesions have been described with or without hyperlipidemia in association with monoclonal immunoglobulin (MIg). Cremer et al 2 first reported on this association in 1937.…”

Section: Introductionmentioning

confidence: 99%

Pathogenesis and treatment of xanthomatosis associated with monoclonal gammopathy

Szalat

Arnulf

Karlin

et al. 2011

Blood

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Xanthomas are a common manifestation of lipid metabolism disorders. They include hyperlipemic xanthoma, normolipemic xanthoma, and a related condition, necrobiotic xanthogranuloma (NXG). All 3 forms can be associated with monoclonal immunoglobulin (MIg). In an attempt to improve diagnosis, understanding, and treatment of this association, we retrospectively analyzed a personal series of 24 patients (2 hyperlipemic xanthoma, 11 normolipemic xanthoma, and 11 NXG) and 230 well-documented reports from the literature. With the exception of the nodules and plaques featured in NXG, the clinical presentation of xanthomatous lesions usually resembled that seen in common hyperlipidemic forms and could not be used to suspect MIg-associated xanthomas. Extracutaneous sites were not rare. The MIg was an IgG in 80% of cases. Myeloma was diagnosed in 35%. Hypocomplementemia with low C4 fraction was present in 80% of studied patients. Low C1 inhibitor serum levels were found in 53%. Cryoglobulinemia was detected in

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“…Increased amounts of plant sterols, particularly sitosterol, stigmasterol, campesterol, and their 5-alpha derivatives are deposited on the arterial walls and in xanthomas in patients with sitosterolemia 21) . The unusually high content of plant sterols in the circulatory lipoproteins has been postulated to possibly promote the deposition of these sterols in the arterial walls [22][23][24][25] . Thus, treatment to reduce serum plant sterol levels in patients with sitosterolemia is crucial for preventing life-threatening cardiovascular events.…”

Section: Introductionmentioning

confidence: 99%

Current Therapy for Patients with Sitosterolemia –Effect of Ezetimibe on Plant Sterol Metabolism

Tsubakio-Yamamoto

Nishida

Nakagawa-Toyama

et al. 2010

JAT

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Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-binding cassette (ABC) transporter ABCG5 or ABCG8 genes. Markedly increased serum concentration of plant sterols. such as sitosterol and campesterol, cause premature atherosclerosis and massive xanthomas. Hitherto known treatments for sitosterolemia, including a low-sterol diet, bile-salt binding resins, ileal bypass surgery and low density lipoprotein (LDL) apheresis have not yielded sufficient reduction of serum plant sterol levels and many patients show a sustained elevation of plant sterol levels, subsequently developing premature atherosclerotic cardiovascular diseases. Ezetimibe, an inhibitor of intestinal cholesterol absorption through its binding to Niemann-Pick C1-like 1 (NPC1L1), has been widely used for decreasing serum LDL-cholesterol levels in patients with hypercholesterolemia. Ezetimibe also reduces the gastrointestinal absorption of plant sterols, thereby also lowering the serum concentrations of plant sterols. This pharmacological property of ezetimibe shows its potential as a novel effective therapy for sitosterolemia. 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. Ezetimibe administration in addition to conventional drug therapy successfully reduced serum sitosterol levels by 51.3% and 48.9%, respectively, in the two patients, demonstrating ezetimibe as a novel and potent treatment agent for sitosterolemia that could work additively with conventional drug therapy. J Atheroscler Thromb, 2010; 17:891-900.

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Normocholesterolemic Xanthomatosis

Abstract: Hypercholesterolemia deadly culprit in the cause of coronary vascular disease, but is it always, or even commonly, the cause of atherosclerosis? The answer is clearly not always, as other factors also play a role in the complex problem of how lipids accumulate in the

Cited by 64 publications

References 3 publications

Xanthelasma palpebrarum: a marker of premature atherosclerosis (risk of atherosclerosis in xanthelasma)

Xanthelasma palpebrarum: a marker of premature atherosclerosis (risk of atherosclerosis in xanthelasma)

Pathogenesis and treatment of xanthomatosis associated with monoclonal gammopathy

Current Therapy for Patients with Sitosterolemia –Effect of Ezetimibe on Plant Sterol Metabolism

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