Pulmonary venoocclusive disease

{{Infobox medical condition (new)

| name = Pulmonary veno-occlusive disease

| synonyms = Obstructive disease of the pulmonary veins{{cite web |title=Pulmonary venoocclusive disease {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/10153/index |website=rarediseases.info.nih.gov |accessdate=31 July 2019}}

| image = Pulmonary veno-occlusive disease (3627471184).jpg

| caption = Pulmonary veno-occlusive disease-Intimal fibrosis with marked narrowing of lumen of a large pulmonary vein

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| symptoms = Shortness of breath, fatigue

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| causes = Narrow pulmonary vein, Pulmonary artery hypertension

| risks =

| diagnosis = Chest x-ray, Chest CT

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| prevention =

| treatment = Vasodilators can be used

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Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension caused by progressive blockage of the small veins in the lungs. The blockage leads to high blood pressures in the arteries of the lungs, which, in turn, leads to heart failure. The disease is progressive and fatal, with median survival of about 2 years from the time of diagnosis to death.{{cite journal |author=Escribano|title=Survival in pulmonary hypertension in Spain: insights from the Spanish registry |journal=Eur Respir J|volume=40|issue= 3|pages=596–603 |date=2012 |pmid= 22362843|doi= 10.1183/09031936.00101211|doi-access=free}} The definitive therapy is lung transplantation.{{cite journal |author=Ye |title=Lengthy Diagnostic Challenge in a Rare Case of Pulmonary Veno-Occlusive Disease: Case Report and Review of the Literature |journal=Intern Med|volume=50|issue= 12|pages= 1323–7|pmid=21673470 |doi= 10.2169/internalmedicine.50.5035 |year=2011|doi-access=free}}

Signs and symptoms

File:Cynosis.JPG

The symptoms for pulmonary veno-occlusive disease are the following:{{cite web |title=Pulmonary veno-occlusive disease: MedlinePlus Medical Encyclopedia |url=https://www.nlm.nih.gov/medlineplus/ency/article/000075.htm |website=www.nlm.nih.gov |accessdate=2015-11-07}}{{cite book |title=Pulmonary Pathology |url=https://books.google.com/books?id=nZ-85eFKK-IC&pg=PA121 |publisher=Elsevier Health Sciences |date=2008-01-01 |page=121 |isbn=978-0-443-06741-9 |language=en |first1=Dani S. |last1=Zander |first2=Carol F. |last2=Farver}}

{{columns-list|colwidth=30em|

Shortness of breath
Fatigue
Fainting
Hemoptysis
Difficulty breathing ( lying flat)
Chest pain
Cyanosis
Hepatosplenic congestion

}}

Cause

The genetic cause of pulmonary veno-occlusive disease is mutations in EIF2AK4 gene. Though this does not mean other possible causes do not exist, such as viral infection and risk of toxic chemicals (chemotherapy drugs).{{Cite web|title = Pulmonary veno-occlusive disease|url = http://ghr.nlm.nih.gov/condition/pulmonary-veno-occlusive-disease|website = Genetics Home Reference|date = 2015-11-02|accessdate = 2015-11-07}}

Pathophysiology

Pulmonary veno-occlusive disease may have a genetic basis. Published reports have indicated fatal occurrences that appeared to possess a familial pattern, more to the point, a germline mutation.{{Cite journal|title = Pulmonary veno-occlusive disease: Recent progress and current challenges|last = Montani|first = David|date = 2010|journal = Respiratory Medicine|doi = 10.1016/j.rmed.2010.03.014|pmid = 20456932|volume=104|pages=S23–S32|doi-access = free}} The pathophysiology of veno-occlusive disease culminates in occlusion of the pulmonary blood vessels. This could be due to edematous tissue (sclerotic fibrous tissue). Thickening is identified in lobular septal veins, also dilatation of lymphatics happens. Furthermore, alveolar capillaries become dilated (due to back-pressure).{{cite web | last=Ali | first=Hakim Azfar | title=Pulmonary Veno-Occlusive Disease: Practice Essentials, Pathophysiology, Etiology | website=Medscape Reference | date=2024-05-28 | url=https://emedicine.medscape.com/article/1464015-overview | access-date=2024-08-09}}

Diagnosis

Pulmonary veno-occlusive disease can only be well diagnosed with a lung biopsy. CT scans may show characteristic findings such as ground-glass opacities in centrilobular distribution, and mediastinal lymphadenopathy, but these findings are non-specific and may be seen in other conditions. However, pulmonary hypertension (revealed via physical examination), in the presence of pleural effusion (done via CT scan) usually indicates a diagnosis of pulmonary veno-occlusive disease. The prognosis indicates usually a 2-year (24 month) life expectancy after diagnosis.{{Cite book|title = Pleural Diseases|url = https://books.google.com/books?id=vHEpRHQXaKUC|publisher = Lippincott Williams & Wilkins|date = 2007-01-01|page=128|isbn = 9780781769570|language = en|first = Richard W.|last = Light}}{{Cite journal|title = CT Findings in Diseases Associated with Pulmonary Hypertension: A Current Review|journal = RadioGraphics|date = 2010-11-01|issn = 0271-5333|pages = 1753–1777|volume = 30|issue = 7|doi = 10.1148/rg.307105710|pmid = 21057119|first1 = Claudia|last1 = Grosse|first2 = Alexandra|last2 = Grosse}}

Treatment

File:Lung transplant.jpg, the definitive therapy of PVOD.]]

Treatments for primary pulmonary hypertension such as prostacyclins and endothelin receptor antagonists can be fatal in people with PVOD due to the development of severe pulmonary edema, and worsening symptoms after initiation of these medications may be a clue to the diagnosis of pulmonary veno-occlusive disease.

The definitive therapy is lung transplantation, though transplant rejection is always a possibility, in this measures must be taken in terms of appropriate treatment and medication.{{cite web | last=Ali | first=Hakim Azfar | title=Pulmonary Veno-Occlusive Disease Treatment & Management: Approach Considerations, Specific PAH Therapies, Immunosuppressants, Steroids, and Antithrombotic Agents | website=Medscape Reference | date=2024-05-28 | url=https://emedicine.medscape.com/article/1464015-treatment | access-date=2024-08-09}}{{Cite web|title = Lung Transplantation: MedlinePlus|url = https://www.nlm.nih.gov/medlineplus/lungtransplantation.html|website = www.nlm.nih.gov|accessdate = 2015-11-07}}

Epidemiology

Pulmonary venoocclusive disease is rare, difficult to diagnose, and probably frequently misdiagnosed as idiopathic pulmonary arterial hypertension. Prevalence in parts of Europe is estimated to be 0.1-0.2 cases per million.{{cite journal |author=Montani|title=Pulmonary veno-occlusive disease |journal=Eur Respir J|volume=33|issue= 1|pages=189–200 |date=2009 |pmid=19118230|doi= 10.1183/09031936.00090608 |doi-access=free}}

PVOD appears to occur as frequently in men as in women, and age at diagnosis ranges from 7–74 years with a median of 39 years. PVOD may occur in patients with associated diseases such as HIV, bone marrow transplantation, and connective tissue diseases. PVOD has also been associated with several chemotherapy regimens such as bleomycin, BCNU, and mitomycin.

Society

Chloe Temtchine, American singer-songwriter with PVOD{{cite news|url=https://nypost.com/2016/07/26/shes-tethered-to-an-oxygen-tank-but-her-singing-career-is-soaring/|title=She's tethered to an oxygen tank, but her singing career is soaring|first=Hardeep|last=Phull|date=July 26, 2016|newspaper=New York Post}}{{cite news|url=http://www.huffingtonpost.com/annette-insdorf/chloe-temtchine_b_4246594.html|title=The Challenges of Chloe Temtchine|first1=Annette |last1=Insdorf|date= November 10, 2013|work=The Huffington Post}}

References

External links

{{Medical resources

| DiseasesDB =

| ICD10 = {{ICD10|I27.2}}

| ICD9 =

| ICDO =

| OMIM = 265450

| MedlinePlus =

| eMedicineSubj =

| eMedicineTopic =

| MeshID = C14.907.690

| Orphanet = 31837

}}

Category:Cardiovascular diseases

Category:Lung disorders