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Pulmonary arterial hypertension associated with connective tissue disease

MedGen UID:
785246
•Concept ID:
C3697982
•
Disease or Syndrome
Synonym: PAH associated with connective tissue disease
SNOMED CT: Pulmonary arterial hypertension associated with connective tissue disease (697903007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Orphanet: ORPHA275798

Definition

A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. [from ORDO]

Professional guidelines

PubMed

Patient characteristics, diagnostic testing, and initial treatment profiles of patients with connective tissue disease-associated pulmonary arterial hypertension using a Japanese claims database.
Tokushige N, Hayashi Y, Omura J, Jinnai T, Atsumi T
Mod Rheumatol 2024 Oct 15;34(6):1202-1212. doi: 10.1093/mr/roae033. PMID: 38581672
Long-Term Outcomes in Patients With Connective Tissue Disease-Associated Pulmonary Arterial Hypertension in the Modern Treatment Era: Meta-Analyses of Randomized, Controlled Trials and Observational Registries.
Khanna D, Zhao C, Saggar R, Mathai SC, Chung L, Coghlan JG, Shah M, Hartney J, McLaughlin V
Arthritis Rheumatol 2021 May;73(5):837-847. Epub 2021 Mar 29 doi: 10.1002/art.41669. PMID: 33538058Free PMC Article
Predictors of Favorable Responses to Immunosuppressive Treatment in Pulmonary Arterial Hypertension Associated With Connective Tissue Disease.
Yasuoka H, Shirai Y, Tamura Y, Takeuchi T, Kuwana M
Circ J 2018 Jan 25;82(2):546-554. Epub 2017 Sep 12 doi: 10.1253/circj.CJ-17-0351. PMID: 28904255

Recent clinical studies

Etiology

Pulmonary arterial hypertension associated with connective tissue diseases (CTD-PAH): Recent and advanced data.
Thoreau B, Mouthon L
Autoimmun Rev 2024 Apr;23(4):103506. Epub 2023 Dec 21 doi: 10.1016/j.autrev.2023.103506. PMID: 38135175
Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review.
Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Diagnosis

Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review.
Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Systemic sclerosis.
Denton CP, Khanna D
Lancet 2017 Oct 7;390(10103):1685-1699. Epub 2017 Apr 13 doi: 10.1016/S0140-6736(17)30933-9. PMID: 28413064
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Therapy

Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review.
Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Update of EULAR recommendations for the treatment of systemic sclerosis.
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Prognosis

Pulmonary arterial hypertension associated with connective tissue diseases (CTD-PAH): Recent and advanced data.
Thoreau B, Mouthon L
Autoimmun Rev 2024 Apr;23(4):103506. Epub 2023 Dec 21 doi: 10.1016/j.autrev.2023.103506. PMID: 38135175
Diagnosis and management of pulmonary veno-occlusive disease.
Solinas S, Boucly A, Beurnier A, Kularatne M, Grynblat J, Eyries M, Dorfmüller P, Sitbon O, Humbert M, Montani D
Expert Rev Respir Med 2023 Jul-Dec;17(8):635-649. Epub 2023 Aug 21 doi: 10.1080/17476348.2023.2247989. PMID: 37578057
Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Pulmonary hypertension in connective tissue diseases, new evidence and challenges.
Vonk MC, Vandecasteele E, van Dijk AP
Eur J Clin Invest 2021 Apr;51(4):e13453. Epub 2020 Dec 5 doi: 10.1111/eci.13453. PMID: 33216992Free PMC Article
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Clinical prediction guides

Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review.
Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Toshner M, Church C, Harbaum L, Rhodes C, Villar Moreschi SS, Liley J, Jones R, Arora A, Batai K, Desai AA, Coghlan JG, Gibbs JSR, Gor D, Gräf S, Harlow L, Hernandez-Sanchez J, Howard LS, Humbert M, Karnes J, Kiely DG, Kittles R, Knightbridge E, Lam B, Lutz KA, Nichols WC, Pauciulo MW, Pepke-Zaba J, Suntharalingam J, Soubrier F, Trembath RC, Schwantes-An TL, Wort SJ, Wilkins MR, Gaine S, Morrell NW, Corris PA; Uniphy Clinical Trials Network
Eur Respir J 2022 Mar;59(3) Epub 2022 Mar 10 doi: 10.1183/13993003.02463-2020. PMID: 34588193Free PMC Article
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.
Hernandez-Gonzalez I, Tenorio-Castano J, Ochoa-Parra N, Gallego N, Pérez-Olivares C, Lago-Docampo M, Palomino Doza J, Valverde D, Lapunzina P, Escribano-Subias P
Cells 2021 Jun 13;10(6) doi: 10.3390/cells10061488. PMID: 34199176Free PMC Article
Systemic Sclerosis and Pulmonary Disease.
Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
Exercise-based evaluations and interventions for pulmonary hypertension with connective tissue disorders.
Babu AS, Morris NR, Arena R, Myers J
Expert Rev Respir Med 2018 Jul;12(7):615-622. Epub 2018 Jun 1 doi: 10.1080/17476348.2018.1481393. PMID: 29798690

Recent systematic reviews

Treatment of pulmonary arterial hypertension in patients with connective tissue diseases: a systematic review and meta-analysis.
Erdogan M, Esatoglu SN, Kilickiran Avci B, Hatemi G
Intern Emerg Med 2024 Apr;19(3):731-743. Epub 2024 Feb 20 doi: 10.1007/s11739-024-03539-1. PMID: 38378970Free PMC Article
The prevalence of pulmonary arterial hypertension in patients with mixed connective tissue disease: a systematic review and meta-analysis.
Hassan AB, Hozayen RF, Mustafa ZS, Lundberg IE, Jahrami HA
Clin Exp Rheumatol 2023 Nov;41(11):2301-2311. Epub 2023 Jul 24 doi: 10.55563/clinexprheumatol/srma43. PMID: 37497727
Immunosuppressive therapy in patients with connective tissue disease-associated pulmonary arterial hypertension: A systematic review.
Ding Y, Qian J, Zhang S, Xu D, Leng X, Zhao J, Wang Q, Zhang W, Tian X, Li M, Zeng X
Int J Rheum Dis 2022 Sep;25(9):982-990. Epub 2022 Jun 14 doi: 10.1111/1756-185X.14368. PMID: 35699128
Update of EULAR recommendations for the treatment of systemic sclerosis.
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129
Screening and diagnostic modalities for connective tissue disease-associated pulmonary arterial hypertension: a systematic review.
Gladue H, Altorok N, Townsend W, McLaughlin V, Khanna D
Semin Arthritis Rheum 2014 Feb;43(4):536-41. Epub 2013 Sep 5 doi: 10.1016/j.semarthrit.2013.08.002. PMID: 24012044Free PMC Article

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