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Pulmonary venoocclusive disease 1(PVOD1)

MedGen UID:
854500
Concept ID:
C3887658
Disease or Syndrome
Synonyms: Pulmonary venoocclusive disease 1, autosomal dominant; PVOD1
 
Gene (location): BMPR2 (2q33.1-33.2)
 
Monarch Initiative: MONDO:0020713
OMIM®: 265450

Definition

Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see 178600), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). Genetic Heterogeneity of Pulmonary Venoocclusive Disease See also PVOD2 (234810), caused by mutation in the EIF2AK4 gene (609280) on chromosome 15q15. [from OMIM]

Additional description

From MedlinePlus Genetics
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension.

The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema).

Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD.

PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis.  https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease

Clinical features

From HPO
Elevated jugular venous pressure
MedGen UID:
636282
Concept ID:
C0520861
Finding
Increased jugular venous pressure.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Pulmonary venous occlusion
MedGen UID:
907103
Concept ID:
C4280802
Finding
Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.
Abnormally loud pulmonic component of the second heart sound
MedGen UID:
1638659
Concept ID:
C4703480
Finding
Centrilobular ground-glass opacification on pulmonary HRCT
MedGen UID:
1383497
Concept ID:
C4476640
Finding
A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.
Interlobular septal thickening
MedGen UID:
1779791
Concept ID:
C5539418
Finding
Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
van den Heuvel LM, Jansen SMA, Alsters SIM, Post MC, van der Smagt JJ, Handoko-De Man FS, van Tintelen JP, Gille H, Christiaans I, Vonk Noordegraaf A, Bogaard H, Houweling AC
Genes (Basel) 2020 Oct 13;11(10) doi: 10.3390/genes11101191. PMID: 33066286Free PMC Article
Tewari P, Wallis W, Kebriaei P
Clin Adv Hematol Oncol 2017 Feb;15(2):130-139. PMID: 28398284

Recent clinical studies

Etiology

Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Kantarjian HM, DeAngelo DJ, Stelljes M, Liedtke M, Stock W, Gökbuget N, O'Brien SM, Jabbour E, Wang T, Liang White J, Sleight B, Vandendries E, Advani AS
Cancer 2019 Jul 15;125(14):2474-2487. Epub 2019 Mar 28 doi: 10.1002/cncr.32116. PMID: 30920645Free PMC Article
Simonneau G, Montani D, Celermajer DS, Denton CP, Gatzoulis MA, Krowka M, Williams PG, Souza R
Eur Respir J 2019 Jan;53(1) Epub 2019 Jan 24 doi: 10.1183/13993003.01913-2018. PMID: 30545968Free PMC Article
Aguilar-Guisado M, Espigado I, Martín-Peña A, Gudiol C, Royo-Cebrecos C, Falantes J, Vázquez-López L, Montero MI, Rosso-Fernández C, de la Luz Martino M, Parody R, González-Campos J, Garzón-López S, Calderón-Cabrera C, Barba P, Rodríguez N, Rovira M, Montero-Mateos E, Carratalá J, Pérez-Simón JA, Cisneros JM
Lancet Haematol 2017 Dec;4(12):e573-e583. Epub 2017 Nov 15 doi: 10.1016/S2352-3026(17)30211-9. PMID: 29153975
Ortiz-Bautista C, Hernández-González I, Escribano-Subías P
Med Clin (Barc) 2017 Mar 22;148(6):265-270. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.031. PMID: 28118962

Diagnosis

Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Simonneau G, Montani D, Celermajer DS, Denton CP, Gatzoulis MA, Krowka M, Williams PG, Souza R
Eur Respir J 2019 Jan;53(1) Epub 2019 Jan 24 doi: 10.1183/13993003.01913-2018. PMID: 30545968Free PMC Article
Aguilar-Guisado M, Espigado I, Martín-Peña A, Gudiol C, Royo-Cebrecos C, Falantes J, Vázquez-López L, Montero MI, Rosso-Fernández C, de la Luz Martino M, Parody R, González-Campos J, Garzón-López S, Calderón-Cabrera C, Barba P, Rodríguez N, Rovira M, Montero-Mateos E, Carratalá J, Pérez-Simón JA, Cisneros JM
Lancet Haematol 2017 Dec;4(12):e573-e583. Epub 2017 Nov 15 doi: 10.1016/S2352-3026(17)30211-9. PMID: 29153975
Ortiz-Bautista C, Hernández-González I, Escribano-Subías P
Med Clin (Barc) 2017 Mar 22;148(6):265-270. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.031. PMID: 28118962
Richardson PG, Riches ML, Kernan NA, Brochstein JA, Mineishi S, Termuhlen AM, Arai S, Grupp SA, Guinan EC, Martin PL, Steinbach G, Krishnan A, Nemecek ER, Giralt S, Rodriguez T, Duerst R, Doyle J, Antin JH, Smith A, Lehmann L, Champlin R, Gillio A, Bajwa R, D'Agostino RB Sr, Massaro J, Warren D, Miloslavsky M, Hume RL, Iacobelli M, Nejadnik B, Hannah AL, Soiffer RJ
Blood 2016 Mar 31;127(13):1656-65. Epub 2016 Jan 29 doi: 10.1182/blood-2015-10-676924. PMID: 26825712Free PMC Article

Therapy

Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Kantarjian HM, DeAngelo DJ, Stelljes M, Liedtke M, Stock W, Gökbuget N, O'Brien SM, Jabbour E, Wang T, Liang White J, Sleight B, Vandendries E, Advani AS
Cancer 2019 Jul 15;125(14):2474-2487. Epub 2019 Mar 28 doi: 10.1002/cncr.32116. PMID: 30920645Free PMC Article
Aguilar-Guisado M, Espigado I, Martín-Peña A, Gudiol C, Royo-Cebrecos C, Falantes J, Vázquez-López L, Montero MI, Rosso-Fernández C, de la Luz Martino M, Parody R, González-Campos J, Garzón-López S, Calderón-Cabrera C, Barba P, Rodríguez N, Rovira M, Montero-Mateos E, Carratalá J, Pérez-Simón JA, Cisneros JM
Lancet Haematol 2017 Dec;4(12):e573-e583. Epub 2017 Nov 15 doi: 10.1016/S2352-3026(17)30211-9. PMID: 29153975
Richardson PG, Riches ML, Kernan NA, Brochstein JA, Mineishi S, Termuhlen AM, Arai S, Grupp SA, Guinan EC, Martin PL, Steinbach G, Krishnan A, Nemecek ER, Giralt S, Rodriguez T, Duerst R, Doyle J, Antin JH, Smith A, Lehmann L, Champlin R, Gillio A, Bajwa R, D'Agostino RB Sr, Massaro J, Warren D, Miloslavsky M, Hume RL, Iacobelli M, Nejadnik B, Hannah AL, Soiffer RJ
Blood 2016 Mar 31;127(13):1656-65. Epub 2016 Jan 29 doi: 10.1182/blood-2015-10-676924. PMID: 26825712Free PMC Article
Montani D, Price LC, Dorfmuller P, Achouh L, Jaïs X, Yaïci A, Sitbon O, Musset D, Simonneau G, Humbert M
Eur Respir J 2009 Jan;33(1):189-200. doi: 10.1183/09031936.00090608. PMID: 19118230

Prognosis

Certain MC, Chaumais MC, Jaïs X, Savale L, Seferian A, Parent F, Georges M, Favrolt N, Bourdin A, Boissin C, Cottin V, Traclet J, Renard S, Noel V, Picard F, Girerd B, Ghigna MR, Perros F, Sitbon O, Bonniaud P, Humbert M, Montani D
Chest 2021 Mar;159(3):1197-1207. Epub 2020 Sep 24 doi: 10.1016/j.chest.2020.09.238. PMID: 32979348
Kantarjian HM, DeAngelo DJ, Stelljes M, Liedtke M, Stock W, Gökbuget N, O'Brien SM, Jabbour E, Wang T, Liang White J, Sleight B, Vandendries E, Advani AS
Cancer 2019 Jul 15;125(14):2474-2487. Epub 2019 Mar 28 doi: 10.1002/cncr.32116. PMID: 30920645Free PMC Article
Simonneau G, Montani D, Celermajer DS, Denton CP, Gatzoulis MA, Krowka M, Williams PG, Souza R
Eur Respir J 2019 Jan;53(1) Epub 2019 Jan 24 doi: 10.1183/13993003.01913-2018. PMID: 30545968Free PMC Article
Montani D, Price LC, Dorfmuller P, Achouh L, Jaïs X, Yaïci A, Sitbon O, Musset D, Simonneau G, Humbert M
Eur Respir J 2009 Jan;33(1):189-200. doi: 10.1183/09031936.00090608. PMID: 19118230
Bush A
Paediatr Respir Rev 2000 Dec;1(4):361-7. doi: 10.1053/prrv.2000.0077. PMID: 16263465

Clinical prediction guides

Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Kantarjian HM, DeAngelo DJ, Stelljes M, Liedtke M, Stock W, Gökbuget N, O'Brien SM, Jabbour E, Wang T, Liang White J, Sleight B, Vandendries E, Advani AS
Cancer 2019 Jul 15;125(14):2474-2487. Epub 2019 Mar 28 doi: 10.1002/cncr.32116. PMID: 30920645Free PMC Article
Girerd B, Weatherald J, Montani D, Humbert M
Eur Respir Rev 2017 Sep 30;26(145) Epub 2017 Sep 6 doi: 10.1183/16000617.0037-2017. PMID: 28877973Free PMC Article
MacIver DH, Adeniran I, MacIver IR, Revell A, Zhang H
Am Heart J 2016 Oct;180:1-11. Epub 2016 Jul 15 doi: 10.1016/j.ahj.2016.07.003. PMID: 27659877
Richardson PG, Riches ML, Kernan NA, Brochstein JA, Mineishi S, Termuhlen AM, Arai S, Grupp SA, Guinan EC, Martin PL, Steinbach G, Krishnan A, Nemecek ER, Giralt S, Rodriguez T, Duerst R, Doyle J, Antin JH, Smith A, Lehmann L, Champlin R, Gillio A, Bajwa R, D'Agostino RB Sr, Massaro J, Warren D, Miloslavsky M, Hume RL, Iacobelli M, Nejadnik B, Hannah AL, Soiffer RJ
Blood 2016 Mar 31;127(13):1656-65. Epub 2016 Jan 29 doi: 10.1182/blood-2015-10-676924. PMID: 26825712Free PMC Article

Recent systematic reviews

Corbacioglu S, Topaloglu O, Aggarwal S
Clin Drug Investig 2022 Jun;42(6):465-476. Epub 2022 May 20 doi: 10.1007/s40261-022-01140-y. PMID: 35594010Free PMC Article
Thanh DQL, Giau HTN, Huong TNG, Linh TNU, Phuc VM, Vuong NL
Pediatr Cardiol 2022 Jun;43(5):943-951. Epub 2022 Apr 15 doi: 10.1007/s00246-022-02904-1. PMID: 35426500
Luo Q, Jin Q, Zhao Z, Zhao Q, Yu X, Yan L, Zhang Y, Xiong C, Liu Z
BMC Pulm Med 2019 Dec 19;19(1):257. doi: 10.1186/s12890-019-1031-3. PMID: 31856792Free PMC Article
Ogawa A, Sakao S, Tanabe N, Matsubara H, Tatsumi K
Respir Investig 2019 Mar;57(2):183-190. Epub 2018 Nov 23 doi: 10.1016/j.resinv.2018.10.004. PMID: 30473253
Liu C, Chen J
Cochrane Database Syst Rev 2006 Jul 19;(3):CD004434. doi: 10.1002/14651858.CD004434.pub3. PMID: 16856046

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