Xanthomatosis (Xanthoma)

A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.

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Networked: 817 relevant articles (25 outcomes, 47 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Xanthomatosis (Xanthoma)
2.	Coronary Artery Disease (Coronary Atherosclerosis)
3.	Atherosclerosis
4.	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
5.	Hypercholesterolemia

Experts

1.	Hegele, Robert A: 8 articles (01/2015 - 10/2002)
2.	Civeira, Fernando: 8 articles (09/2014 - 03/2004)
3.	Kodama, Hajime: 8 articles (10/2007 - 12/2002)
4.	Ikeda, Mitsunori: 8 articles (10/2007 - 12/2002)
5.	Matsumoto, Masaaki: 7 articles (10/2007 - 12/2002)
6.	Yamashita, Shizuya: 6 articles (08/2015 - 08/2005)
7.	Björkhem, Ingemar: 6 articles (08/2013 - 07/2002)
8.	Calandra, Sebastiano: 5 articles (01/2015 - 04/2003)
9.	Santos, Raul D: 5 articles (12/2013 - 02/2008)
10.	Frohlich, Jiri: 5 articles (01/2012 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Xanthomatosis:

1.	CholesterolIBA 05/01/1970 - "With the treatment of all disorders the lipid values should improve; however, with the treatment of Type III disorder both triglyceride and cholesterol levels return to normal, xanthoma resorb and there is an improvement in the peripheral blood flow, indicating that there has been amelioration of the atherosclerotic process." 01/01/2004 - "The present study investigated the effect of CDCA on the mechanism of cholesterol accumulation in macrophages, the major cells in xanthoma. " 06/01/1988 - "[Studies on the cholesterol transfer in serum in patients with xanthoma]." 02/01/1972 - "Specific activity of biopsied xanthoma cholesterol was measured four times in the course of the study. " 01/01/2015 - "Xanthomatosis is produced by accumulation of cholesterol-rich foamy macrophages. "
2.	Probucol (Lorelco)FDA Link 04/01/1992 - "This effect implies that probucol can be effective for treatment of atheromatous lesions, because xanthoma is a lesion which consists of macrophage-derived foam cells. " 05/01/2013 - "Plane xanthoma is primarily treated with excisional or abrasive therapies; however, probucol can be a safe and effective alternative therapy for DNPX." 05/01/2013 - "Successful treatment of diffuse normolipemic plane xanthoma with probucol." 04/01/1992 - "However, the precise mechanism of probucol in causing regression of xanthoma has not been clarified. " 03/01/1990 - "Moreover, there are some clinical reports that probucol causes a regression of cutaneous and tendon xanthomas in homozygous FH patients. "
3.	ezetimibe (Zetia)FDA Link 07/01/2014 - "The drug ezetimibe appears to be effective in reducing plasma plant sterol levels, promotes xanthoma regression, and improves the cardiovascular and hematological signs in sitosterolemic patients." 01/01/2007 - "Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. " 05/01/2006 - "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." 05/01/2006 - "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. " 05/01/2006 - "Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis."
4.	Lipoproteins (Lipoprotein)IBA 12/01/2006 - "This study was designated to clarify the contribution of low density lipoprotein (LDL) density substances existing in xanthoma tissue to foam cell formation. " 01/01/1996 - "Our data highlight the importance of a critical review of studies regarding normolipidemic xanthomatosis, since only after an extensive follow-up and sequential analyses of lipoprotein fractions is it possible to exclude the presence of time variables and complex lipoprotein abnormalities." 10/15/2015 - "An impairment of extracutaneous lipid trafficking leads to the development of xanthomas, mostly arising in hyperlipidemic patients, but also in subjects with high-density lipoprotein (HDL) deficiency. " 06/04/2015 - "As a consequence, lipoproteins can enter the brain, resulting in accelerated formation of xanthomas." 06/01/2014 - "Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fasciae that predominantly consist of foam cells; these specific cells are formed from macrophages as a result of an excessive uptake of low density lipoprotein (LDL) particles and their oxidative modification. "
5.	LDL CholesterolIBA 01/01/2016 - "Within a follow-up duration of 6-13 years, this triple therapy achieved significant reduction of LDL cholesterol as well as an impressive regression of xanthomas in all paediatric cases. " 09/01/1997 - "This study demonstrates an increase in plasma LDL influx into the skin at sites where mast cells are stimulated, and so suggests that mast cells play a role in the accumulation of LDL cholesterol that occurs in the skin when xanthomas form." 11/01/2015 - "Ninety-seven patients with low-density lipoprotein-cholesterol >190 mg/dL and xanthoma or FH-compatible family history were included. " 03/01/2012 - "He had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). " 01/01/2012 - "Diagnostic criteria for heterozygous FH are 2 or more of 1) LDL-cholesterol ≥180 mg/dL, 2) tendon/skin xanthoma(s), and 3) family history of FH or premature CAD within second degree relatives, for adults; and to have both 1) LDL-cholesterol ≥140 mg/dL and 2) family history of FH or premature CAD within second degree relatives, for children. "
6.	Apolipoproteins E (ApoE)IBA 07/14/2000 - "These results indicate that the local inhibition of ACAT activity in tissue macrophages is protective against cholesteryl ester accumulation but causes cutaneous xanthomatosis in mice that lack apo E or LDLR." 06/04/2015 - "After 20 weeks WD, 83% of ApoE(-/-)Fbn1(C1039G+/-) mice showed xanthomas in the brain, compared to 23% of their ApoE(-/-) littermates. " 01/01/2001 - "This order, however, did not match that in xanthoma, which was highly prominant in KOR-Apoe(shl) but mild in B6.KOR-Apoe(shl), C.KOR-Apoe(shl) and C3.KOR-Apoe(shl). " 01/01/2001 - "This order, however, did not match that in xanthoma, which was highly prominent in KOR-Apoe(shl) but mild in B6.KOR-Apoe(shl), C.KOR-Apoe(shl) and C3.KORApoe(shl). " 07/14/2000 - "High fat feeding resulted in extensive cutaneous xanthomatosis with loss of hair in both ACAT-1-/-:apo E-/- and ACAT-1-/-:LDLR-/- mice. "
7.	Cholestanol (Coprostanol)IBA 03/01/2013 - "This disease is characterized by cholestanol-containing xanthomas in tendons and brain and we could show that most of this cholestanol is formed from 7α-hydroxy-4-cholesten-3-one. " 09/01/2010 - "The driving force in the development of the xanthomas is likely to be conversion of a bile acid precursor into cholestanol. " 05/21/2010 - "Such treatment reduces the xanthomas in CTX patients in parallel with decreased cholestanol levels. " 04/01/2009 - "Early diagnosis of CTX therefore rests on measurement of serum beta-cholestanol levels, even in absence of tendon xanthomas." 04/01/2009 - "It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of beta-cholestanol. "
8.	HDL CholesterolIBA 04/01/2008 - "In this study we report a 17-year-old male with high TG and low high density lipoprotein cholesterol (HDL-C), who at the age of two had been found to have severe HTG and eruptive xanthomas suggesting a chylomicronaemia syndrome. " 08/01/1999 - "However, higher level of serum HDL3 cholesterol was an independent factor in the smaller size of Achilles' tendon xanthoma at baseline. " 06/01/1994 - "Probucol, the only drug shown to induce xanthoma regression in HFH, is a potent antioxidant, but it also lowers high-density lipoprotein cholesterol (HDL-C) levels, causing some concern. " 04/21/1984 - "[Idiopathic juvenile cutaneous xanthomatosis with normal blood lipids and low levels of high density lipoprotein-cholesterol]." 02/01/1982 - "The main beneficial effects were regression of xanthomas and sustained falls in serum total and LDL cholesterol levels of about 18% in the majority of cases, sustained rises in HDL cholesterol values in most patients, and the long period of survival after the operation without further deaths or serious cardiac complications. "
9.	SitosterolemiaIBA 03/01/2015 - "[Sitosterolemia in a 2 year-old child with xanthomas and hematological anomalies]." 07/03/2003 - "Phytosterolemia and xanthomatosis." 11/01/2000 - "We present a 7-year-old girl with sitosterolemia and tuberous xanthomas." 11/01/2000 - "Tuberous xanthomas in sitosterolemia." 02/01/1997 - "The clinical features of the first case of a patient with sitosterolemia and generalized eruptive xanthomatosis are described. "
10.	Heparin (Liquaemin)FDA LinkGeneric 01/01/1953 - "[Xanthomatosis improved by heparin therapy]." 12/09/1960 - "[Hyperlipemic xanthomatosis and therapy with heparin bodies]." 01/01/1958 - "[Heparin therapy and clinical manifestations of idiopathic hyperlipemic xanthomatosis]." 01/01/1957 - "[Effect of heparin on lipoid electrophoresis diagram in idiopathic hyperlipidemic xanthomatosis]." 01/01/1956 - "[Hyperlipemic xanthomatosis and its treatment with heparin]."

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 10/06/2011 - "Indeed, among the patients who received chemotherapy, hematologic remission was accompanied by improvement in xanthoma lesions in several cases." 01/01/2009 - "NPX developed after several courses of chemotherapy and the supraglottic xanthoma occurred about 2 years later. " 05/01/2003 - "We report a new case of demodicidosis in a 22-month-old girl undergoing chemotherapy for chronic myelomonocytic leukaemia associated with xanthoma and type 1 neurofibromatosis. " 10/03/1989 - "Tendon xanthomas occur in hypercholesterolemia, and reduction in xanthoma size with drug therapy suggests an improved atherosclerotic disease state. " 11/01/1997 - "Therefore, drug therapy of cholestatic liver disease focuses on the improvement of symptoms such as fatigue, pruritus, abdominal discomfort, jaundice, xanthoma, hypercholesterolemia, portal hypertension, blood count abnormalities, osteoporosis/osteomalacia, and the prevention of complications such as bile-duct strictures in PSC and development of cholangiocarcinoma. "
2.	Liver Transplantation 11/01/2004 - "Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation." 12/01/2003 - "Xanthomas disappear rapidly after liver transplantation for familial hypercholesterolemia." 05/01/1998 - "We report a child with severe Alagille syndrome in whom orthotopic liver transplantation caused rapid resolution of disfiguring xanthomas." 05/01/1998 - "Resolution of xanthomas in Alagille syndrome after liver transplantation." 12/01/1989 - "Liver transplantation was undertaken for decompensated chronic liver disease and poor quality of life due to complications of xanthomatosis. "
3.	Blood Component Removal (Apheresis) 01/01/1991 - "LDL-apheresis was judged as effective in 25 out of 44 patients with IHD or xanthoma." 04/01/2005 - "Although several treatments for Achilles tendon xanthomas (ATX) have been proposed (LDL apheresis, statins, etc.), they target mostly in the treatment of the basic metabolic disorder of lipid metabolism, which is the main cause of these lesions. " 10/01/1995 - "Long-term LDL-apheresis leads to regression of manifestations of xanthomatosis of the skin and tendons, it prevents progression and starts regression of atherosclerosis in patients with severe hypercholesterolaemia. " 07/01/1993 - "After 3 years of LDL apheresis, a decrease in the frequency of anginal chest pain and ST segment depression on exercise testing and a marked reduction of tendon xanthoma size were observed." 05/01/1991 - "The reduction of plasma cholesterol levels was associated with a complete regression of the xanthomas, supporting DF apheresis as a first-choice treatment for patients with massive LP-X accumulation due to cholestasis."
4.	Aftercare (After-Treatment) 07/01/2009 - "Remission of the eruption after treatment of dyslipidemia confirmed the diagnosis of the eruptive xanthoma and motivated research about the histological similarities and differences between these diseases." 03/01/2012 - "Eruptive xanthomas often rapidly resolve after treatment of the hyperlipidemia has begun." 03/21/1988 - "[Long-term after care in chronic skin diseases exemplified by idiopathic hyperlipidemic xanthomatosis]." 03/01/2013 - "Adverse reactions of Achilles tendon xanthomas in three hypercholesterolemic patients after treatment intensification with niacin and bile acid sequestrants."
5.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 06/01/2005 - "Thyroid and corticosteroid hormone replacement therapy cured the xanthomas, but also elevated her blood pressure. "