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Xanthomatosis, susceptibility to

MedGen UID:
356066
Concept ID:
C1865704
Disease or Syndrome
Synonym: XANTHOMATOSIS, SUSCEPTIBILITY TO
 
Monarch Initiative: MONDO:0011207
OMIM®: 602247

Clinical features

From HPO
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Xanthomatosis
MedGen UID:
21939
Concept ID:
C0043325
Disease or Syndrome
The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.

Professional guidelines

PubMed

Silva PRS, Jannes CE, Oliveira TGM, Miname MH, Rocha VZ, Chacra AP, Gurgel MHC, Montenegro RM, Rodrigues Sobrinho CRM, Bello Moreira AS, Assad MHV, Pinto MRC, Tada MT, Santos RD, Pereira AC, Krieger JE
Atherosclerosis 2017 Aug;263:257-262. Epub 2017 Jun 22 doi: 10.1016/j.atherosclerosis.2017.06.917. PMID: 28689098

Recent clinical studies

Etiology

Getz GI, Parag-Sharma K, Reside J, Padilla RJ, Amelio AL
Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Jul;128(1):60-69. Epub 2019 Feb 23 doi: 10.1016/j.oooo.2019.02.015. PMID: 31078502
Silva PRS, Jannes CE, Oliveira TGM, Miname MH, Rocha VZ, Chacra AP, Gurgel MHC, Montenegro RM, Rodrigues Sobrinho CRM, Bello Moreira AS, Assad MHV, Pinto MRC, Tada MT, Santos RD, Pereira AC, Krieger JE
Atherosclerosis 2017 Aug;263:257-262. Epub 2017 Jun 22 doi: 10.1016/j.atherosclerosis.2017.06.917. PMID: 28689098
Lee SH
J Atheroscler Thromb 2016 May 2;23(5):532-8. Epub 2016 Mar 5 doi: 10.5551/jat.34363. PMID: 26947601
Mishra K, Behari A, Kapoor VK, Khan MS, Prakash S, Agrawal S
J Gastroenterol Hepatol 2013 Oct;28(10):1678-85. doi: 10.1111/jgh.12343. PMID: 23962084
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ
Eur J Neurol 2011 Oct;18(10):1203-11. Epub 2011 Jun 4 doi: 10.1111/j.1468-1331.2011.03439.x. PMID: 21645175

Diagnosis

Xu Y, Zhang X, Xia Q, Zhou Y, Wang X, Fang R, Wang Y, Tong Q, Chen J, Shi J, Fu Y, Rao Q
Am J Surg Pathol 2024 Jun 1;48(6):662-670. Epub 2024 Apr 9 doi: 10.1097/PAS.0000000000002215. PMID: 38595297
Lee SH
J Atheroscler Thromb 2016 May 2;23(5):532-8. Epub 2016 Mar 5 doi: 10.5551/jat.34363. PMID: 26947601
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S
Curr Atheroscler Rep 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. PMID: 25712136
Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP
Mov Disord 2012 Dec;27(14):1769-74. Epub 2012 Nov 2 doi: 10.1002/mds.25229. PMID: 23124517
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ
Eur J Neurol 2011 Oct;18(10):1203-11. Epub 2011 Jun 4 doi: 10.1111/j.1468-1331.2011.03439.x. PMID: 21645175

Therapy

Luirink IK, Hutten BA, Greber-Platzer S, Kolovou GD, Dann EJ, de Ferranti SD, Taylan C, Bruckert E, Saheb S, Oh J, Driemeyer J, Farnier M, Pape L, Schmitt CP, Novoa FJ, Maeser M, Masana L, Shahrani A, Wiegman A, Groothoff JW
Atherosclerosis 2020 Apr;299:24-31. Epub 2020 Feb 18 doi: 10.1016/j.atherosclerosis.2020.01.031. PMID: 32199148
Metz P, Tjan MJH, Wu S, Pervaiz M, Hermans S, Shettigar A, Sears CL, Ritschel T, Dutilh BE, Boleij A
Front Cell Infect Microbiol 2019;9:364. Epub 2019 Oct 25 doi: 10.3389/fcimb.2019.00364. PMID: 31709196Free PMC Article
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR
J Thromb Haemost 2017 Sep;15(9):1859-1866. Epub 2017 Aug 5 doi: 10.1111/jth.13777. PMID: 28696550
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S
Curr Atheroscler Rep 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. PMID: 25712136
Kinoshita M, Kawamura M, Fujita M, Hirota D, Suda T, Taki M, Kusano J, Takao K, Takenaka H, Kubota S, Teramoto T
J Atheroscler Thromb 2004;11(3):167-72. doi: 10.5551/jat.11.167. PMID: 15256768

Prognosis

Xu Y, Zhang X, Xia Q, Zhou Y, Wang X, Fang R, Wang Y, Tong Q, Chen J, Shi J, Fu Y, Rao Q
Am J Surg Pathol 2024 Jun 1;48(6):662-670. Epub 2024 Apr 9 doi: 10.1097/PAS.0000000000002215. PMID: 38595297
Metz P, Tjan MJH, Wu S, Pervaiz M, Hermans S, Shettigar A, Sears CL, Ritschel T, Dutilh BE, Boleij A
Front Cell Infect Microbiol 2019;9:364. Epub 2019 Oct 25 doi: 10.3389/fcimb.2019.00364. PMID: 31709196Free PMC Article
Silva PRS, Jannes CE, Oliveira TGM, Miname MH, Rocha VZ, Chacra AP, Gurgel MHC, Montenegro RM, Rodrigues Sobrinho CRM, Bello Moreira AS, Assad MHV, Pinto MRC, Tada MT, Santos RD, Pereira AC, Krieger JE
Atherosclerosis 2017 Aug;263:257-262. Epub 2017 Jun 22 doi: 10.1016/j.atherosclerosis.2017.06.917. PMID: 28689098
Lee SH
J Atheroscler Thromb 2016 May 2;23(5):532-8. Epub 2016 Mar 5 doi: 10.5551/jat.34363. PMID: 26947601
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ
Eur J Neurol 2011 Oct;18(10):1203-11. Epub 2011 Jun 4 doi: 10.1111/j.1468-1331.2011.03439.x. PMID: 21645175

Clinical prediction guides

Metz P, Tjan MJH, Wu S, Pervaiz M, Hermans S, Shettigar A, Sears CL, Ritschel T, Dutilh BE, Boleij A
Front Cell Infect Microbiol 2019;9:364. Epub 2019 Oct 25 doi: 10.3389/fcimb.2019.00364. PMID: 31709196Free PMC Article
Silva PRS, Jannes CE, Oliveira TGM, Miname MH, Rocha VZ, Chacra AP, Gurgel MHC, Montenegro RM, Rodrigues Sobrinho CRM, Bello Moreira AS, Assad MHV, Pinto MRC, Tada MT, Santos RD, Pereira AC, Krieger JE
Atherosclerosis 2017 Aug;263:257-262. Epub 2017 Jun 22 doi: 10.1016/j.atherosclerosis.2017.06.917. PMID: 28689098
Lee SH
J Atheroscler Thromb 2016 May 2;23(5):532-8. Epub 2016 Mar 5 doi: 10.5551/jat.34363. PMID: 26947601
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ
Eur J Neurol 2011 Oct;18(10):1203-11. Epub 2011 Jun 4 doi: 10.1111/j.1468-1331.2011.03439.x. PMID: 21645175
Kinoshita M, Kawamura M, Fujita M, Hirota D, Suda T, Taki M, Kusano J, Takao K, Takenaka H, Kubota S, Teramoto T
J Atheroscler Thromb 2004;11(3):167-72. doi: 10.5551/jat.11.167. PMID: 15256768

Recent systematic reviews

Badura-Stronka M, Hirschfeld AS, Winczewska-Wiktor A, Budzyńska E, Jakubiuk-Tomaszuk A, Piontek A, Steinborn B, Kozubski W
Clin Genet 2022 Feb;101(2):190-207. Epub 2021 Nov 24 doi: 10.1111/cge.14079. PMID: 34689324

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