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Large vessel vasculitis

MedGen UID:
870761
Concept ID:
C4025218
Disease or Syndrome
Synonym: Vasculitis of large artery
SNOMED CT: Vasculitis of large artery (724597006); Large vessel vasculitis (724597006)
 
HPO: HP:0005310

Definition

A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. [from HPO]

Term Hierarchy

Conditions with this feature

Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.

Professional guidelines

PubMed

Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1349-1365. Epub 2021 Jul 8 doi: 10.1002/art.41774. PMID: 34235884
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110

Recent clinical studies

Etiology

Grayson PC, Ponte C, Suppiah R, Robson JC, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Danda D, Luqmani RA, Watts RA, Merkel PA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1654-1660. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223482. PMID: 36351705
Torp CK, Brüner M, Keller KK, Brouwer E, Hauge EM, McGonagle D, Kragstrup TW
Autoimmun Rev 2021 Jun;20(6):102829. Epub 2021 Apr 16 doi: 10.1016/j.autrev.2021.102829. PMID: 33872767
Pugh D, Grayson P, Basu N, Dhaun N
Heart 2021 Oct;107(20):1620-1629. Epub 2021 Feb 16 doi: 10.1136/heartjnl-2020-318085. PMID: 33593995
Saadoun D, Vautier M, Cacoub P
Circulation 2021 Jan 19;143(3):267-282. doi: 10.1161/CIRCULATIONAHA.120.046657. PMID: 33464968
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110

Diagnosis

Moretti M, Treppo E, Monti S, La Rocca G, Del Frate G, Delvino P, Italiano N, Di Cianni F, D'Alessandro F, Talarico R, Ferro F, Quartuccio L, Baldini C
Clin Exp Rheumatol 2023 Apr;41(4):765-773. Epub 2023 Apr 18 doi: 10.55563/clinexprheumatol/zf4daj. PMID: 37073639
Pepper K
Postgrad Med 2023 Jan;135(sup1):22-32. Epub 2023 Apr 6 doi: 10.1080/00325481.2023.2190288. PMID: 37021621
Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Pugh D, Karabayas M, Basu N, Cid MC, Goel R, Goodyear CS, Grayson PC, McAdoo SP, Mason JC, Owen C, Weyand CM, Youngstein T, Dhaun N
Nat Rev Dis Primers 2022 Jan 6;7(1):93. doi: 10.1038/s41572-021-00327-5. PMID: 34992251Free PMC Article
Saadoun D, Vautier M, Cacoub P
Circulation 2021 Jan 19;143(3):267-282. doi: 10.1161/CIRCULATIONAHA.120.046657. PMID: 33464968

Therapy

Pepper K
Postgrad Med 2023 Jan;135(sup1):22-32. Epub 2023 Apr 6 doi: 10.1080/00325481.2023.2190288. PMID: 37021621
Somashekar A, Leung YT
Postgrad Med 2023 Jan;135(sup1):14-21. Epub 2023 Jan 2 doi: 10.1080/00325481.2022.2159723. PMID: 36588528
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1349-1365. Epub 2021 Jul 8 doi: 10.1002/art.41774. PMID: 34235884
Saadoun D, Vautier M, Cacoub P
Circulation 2021 Jan 19;143(3):267-282. doi: 10.1161/CIRCULATIONAHA.120.046657. PMID: 33464968
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110

Prognosis

Dejaco C, Ramiro S, Bond M, Bosch P, Ponte C, Mackie SL, Bley TA, Blockmans D, Brolin S, Bolek EC, Cassie R, Cid MC, Molina-Collada J, Dasgupta B, Nielsen BD, De Miguel E, Direskeneli H, Duftner C, Hočevar A, Molto A, Schäfer VS, Seitz L, Slart RHJA, Schmidt WA
Ann Rheum Dis 2024 May 15;83(6):741-751. doi: 10.1136/ard-2023-224543. PMID: 37550004
Kermani TA, Byram K
Rheum Dis Clin North Am 2023 Aug;49(3):523-543. Epub 2023 Apr 28 doi: 10.1016/j.rdc.2023.03.013. PMID: 37331731
Pugh D, Karabayas M, Basu N, Cid MC, Goel R, Goodyear CS, Grayson PC, McAdoo SP, Mason JC, Owen C, Weyand CM, Youngstein T, Dhaun N
Nat Rev Dis Primers 2022 Jan 6;7(1):93. doi: 10.1038/s41572-021-00327-5. PMID: 34992251Free PMC Article
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347
Schmidt WA
Clin Exp Rheumatol 2014 Jan-Feb;32(1 Suppl 80):S71-7. Epub 2014 Feb 17 PMID: 24529335

Clinical prediction guides

Dejaco C, Ramiro S, Bond M, Bosch P, Ponte C, Mackie SL, Bley TA, Blockmans D, Brolin S, Bolek EC, Cassie R, Cid MC, Molina-Collada J, Dasgupta B, Nielsen BD, De Miguel E, Direskeneli H, Duftner C, Hočevar A, Molto A, Schäfer VS, Seitz L, Slart RHJA, Schmidt WA
Ann Rheum Dis 2024 May 15;83(6):741-751. doi: 10.1136/ard-2023-224543. PMID: 37550004
Grayson PC, Ponte C, Suppiah R, Robson JC, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Danda D, Luqmani RA, Watts RA, Merkel PA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1654-1660. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223482. PMID: 36351705
Drosos GC, Vedder D, Houben E, Boekel L, Atzeni F, Badreh S, Boumpas DT, Brodin N, Bruce IN, González-Gay MÁ, Jacobsen S, Kerekes G, Marchiori F, Mukhtyar C, Ramos-Casals M, Sattar N, Schreiber K, Sciascia S, Svenungsson E, Szekanecz Z, Tausche AK, Tyndall A, van Halm V, Voskuyl A, Macfarlane GJ, Ward MM, Nurmohamed MT, Tektonidou MG
Ann Rheum Dis 2022 Jun;81(6):768-779. Epub 2022 Feb 2 doi: 10.1136/annrheumdis-2021-221733. PMID: 35110331
Keser G, Aksu K, Direskeneli H
Turk J Med Sci 2018 Aug 16;48(4):681-697. doi: 10.3906/sag-1804-136. PMID: 30114347
Schmidt WA
Clin Exp Rheumatol 2014 Jan-Feb;32(1 Suppl 80):S71-7. Epub 2014 Feb 17 PMID: 24529335

Recent systematic reviews

Dejaco C, Ramiro S, Bond M, Bosch P, Ponte C, Mackie SL, Bley TA, Blockmans D, Brolin S, Bolek EC, Cassie R, Cid MC, Molina-Collada J, Dasgupta B, Nielsen BD, De Miguel E, Direskeneli H, Duftner C, Hočevar A, Molto A, Schäfer VS, Seitz L, Slart RHJA, Schmidt WA
Ann Rheum Dis 2024 May 15;83(6):741-751. doi: 10.1136/ard-2023-224543. PMID: 37550004
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1349-1365. Epub 2021 Jul 8 doi: 10.1002/art.41774. PMID: 34235884
Torp CK, Brüner M, Keller KK, Brouwer E, Hauge EM, McGonagle D, Kragstrup TW
Autoimmun Rev 2021 Jun;20(6):102829. Epub 2021 Apr 16 doi: 10.1016/j.autrev.2021.102829. PMID: 33872767
Daxini A, Cronin K, Sreih AG
Clin Rheumatol 2018 Sep;37(9):2579-2584. Epub 2018 Jun 19 doi: 10.1007/s10067-018-4177-0. PMID: 29923081
Dejaco C, Ramiro S, Duftner C, Besson FL, Bley TA, Blockmans D, Brouwer E, Cimmino MA, Clark E, Dasgupta B, Diamantopoulos AP, Direskeneli H, Iagnocco A, Klink T, Neill L, Ponte C, Salvarani C, Slart RHJA, Whitlock M, Schmidt WA
Ann Rheum Dis 2018 May;77(5):636-643. Epub 2018 Jan 22 doi: 10.1136/annrheumdis-2017-212649. PMID: 29358285

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