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PLoS One ; 15(4): e0232216, 2020.
Article En | MEDLINE | ID: mdl-32348326

BACKGROUND: The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease. METHODS: Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4. RESULTS: Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease. CONCLUSIONS: Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.

Familial Primary Pulmonary Hypertension/genetics , Genetic Variation , T-Box Domain Proteins/genetics , Adolescent , Adult , Child , Child, Preschool , Codon, Nonsense , Diagnosis, Differential , Familial Primary Pulmonary Hypertension/diagnosis , Familial Primary Pulmonary Hypertension/diagnostic imaging , Female , Gene Deletion , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Mutation, Missense , Pedigree , Phenotype , Polymorphism, Single Nucleotide , Prognosis , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/genetics
Am J Pathol ; 190(7): 1382-1396, 2020 07.
Article En | MEDLINE | ID: mdl-32275906

Pulmonary hypertension and pulmonary vascular remodeling (PVR) are common in many lung diseases leading to right ventricular dysfunction and death. Differences in PVR result in significant prognostic divergences in both the pulmonary arterial and venous compartments, as in pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD), respectively. Our goal was to identify compartment-specific molecular hallmarks of PVR, considering the risk of life-threatening pulmonary edema in PVOD, if treated by conventional pulmonary hypertension therapy. Formalin-fixed and paraffin-embedded tissues from fresh explanted human lungs of patients with PVOD (n = 19), PAH (n = 20), idiopathic pulmonary fibrosis (n = 13), and chronic obstructive pulmonary disease (n = 15), were analyzed for inflammation and kinome-related gene regulation. The generated neuronal network differentiated PVOD from PAH samples with a sensitivity of 100% and a specificity of 92% in a randomly chosen validation set, a level far superior to established diagnostic algorithms. Further, various alterations were identified regarding the gene expression of explanted lungs with PVR, compared with controls. Specifically, the dysregulation of microtubule-associated serine/threonine kinase 2 and protein-o-mannose kinase SGK196 in all disease groups suggests a key role in pulmonary vasculopathy for the first time. Our findings promise to help develop novel target-specific interventions and innovative approaches to facilitate clinical diagnostics in an elusive group of diseases.

Airway Remodeling/physiology , Hypertension, Pulmonary/physiopathology , Pulmonary Veno-Occlusive Disease/physiopathology , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Hypertension, Pulmonary/classification , Hypertension, Pulmonary/diagnosis , Idiopathic Pulmonary Fibrosis/classification , Idiopathic Pulmonary Fibrosis/diagnosis , Idiopathic Pulmonary Fibrosis/physiopathology , Male , Middle Aged , Pulmonary Disease, Chronic Obstructive/classification , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/physiopathology , Pulmonary Veno-Occlusive Disease/classification , Pulmonary Veno-Occlusive Disease/diagnosis , Transcriptome , Young Adult
J Investig Med High Impact Case Rep ; 7: 2324709619840375, 2019.
Article En | MEDLINE | ID: mdl-31010327

Pulmonary veno-occlusive disease (PVOD) is a rare entity that is usually mistaken with pulmonary arterial hypertension (PAH) but is considered class I' of PAH. It is important to subclassify PVOD and distinguish it from PAH as treatment with vasodilators in PVOD patients is controversial and may be fatal. In this article, we describe a case of PVOD and how we diagnosed it.

Pulmonary Arterial Hypertension/etiology , Pulmonary Veno-Occlusive Disease/diagnosis , Adult , Female , Humans , Lung Transplantation , Pulmonary Veno-Occlusive Disease/complications , Tomography, X-Ray Computed
Am J Pathol ; 189(6): 1159-1175, 2019 06.
Article En | MEDLINE | ID: mdl-30926335

Hepatic veno-occlusive disease (HVOD), alias sinusoidal obstruction syndrome, may develop as a complication of chemotherapy in the setting of hematopoietic stem cell transplantation. HVOD is less frequently described after exposure to chemotherapy in the nontransplant setting and can also be a complication after ingestion of toxins, such as pyrrolizidine alkaloids. Veno-occlusive disease may also affect the lungs, and it is therefore termed pulmonary veno-occlusive disease (PVOD). Similarly, PVOD can develop after exposure to chemotherapeutic agents in the treatment of solid and hematological malignancies. In addition, PVOD has also been linked to autoimmune disorders and occupational solvent exposure. Finally, the heritable form of PVOD is due to biallelic mutations of the EIF2AK4 gene. Both HVOD and PVOD share common histopathological features and pathophysiologic mechanisms. Both clinical disorders are rare complications that can appear after exposure to the common inciting trigger of chemotherapeutic agents. The present review aims to summarize the current knowledge of HVOD and PVOD and to describe both similarities as well as differences regarding both conditions.

Hepatic Veno-Occlusive Disease/pathology , Pulmonary Veno-Occlusive Disease/pathology , Animals , Diagnosis, Differential , Disease Models, Animal , Genetic Predisposition to Disease , Hepatic Veno-Occlusive Disease/diagnosis , Hepatic Veno-Occlusive Disease/etiology , Hepatic Veno-Occlusive Disease/therapy , Humans , Prognosis , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/etiology , Pulmonary Veno-Occlusive Disease/therapy , Rats , Risk Factors
J Vet Intern Med ; 33(1): 114-123, 2019 Jan.
Article En | MEDLINE | ID: mdl-30499214

BACKGROUND: Histologic features of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) have been described in dogs but without a thorough clinical description. OBJECTIVES: To report the clinical features, diagnostics, treatment, and outcome of dogs with histologic evidence of PVOD and PCH. ANIMALS: Fifteen pet dogs meeting histopathologic criteria of PVOD (occlusive remodeling of small-sized to medium-sized pulmonary veins) or PCH (alveolar capillary proliferation and congestion), or both. METHODS: Medical records of dogs with PVOD and PCH identified based on histopathologic features between 2003 and 2017 were retrospectively reviewed. RESULTS: Fifteen dogs met inclusion criteria of a histologic diagnosis of PVOD or PCH or both. Dogs were older (median 11 years) with no apparent breed or sex predisposition. Dogs presented with acute clinical signs (median 3 days), usually respiratory distress. Thoracic radiography (available in 10 dogs) revealed right cardiomegaly and patchy or diffuse interstitial to alveolar patterns, with 9 dogs having a normal left cardiac silhouette. In 5 dogs tested, pulmonary arterial hypertension (PAH) was documented. In all 3 dogs, thoracic computed tomography scans showed pulmonary arterial enlargement and perivascular diffuse nodular ground-glass opacities. Ten of 15 dogs died within 1 day; median survival was 3 days. CONCLUSIONS AND CLINICAL IMPORTANCE: In dogs with PAH, the inability to document left-sided congestive heart failure and failure to identify another cause of signs of respiratory disease should increase suspicion for PVOD and PCH. With increased awareness of PVOD and PCH by clinicians and pathologists, dogs with compatible clinicopathologic features should be evaluated for these pulmonary vascular disorders.

Dog Diseases/pathology , Hemangioma/veterinary , Lung Neoplasms/veterinary , Pulmonary Veno-Occlusive Disease/veterinary , Animals , Capillaries/pathology , Dog Diseases/diagnosis , Dog Diseases/diagnostic imaging , Dogs , Female , Hemangioma/diagnosis , Hemangioma/diagnostic imaging , Hemangioma/pathology , Lung/blood supply , Lung/diagnostic imaging , Lung/pathology , Lung Neoplasms/diagnosis , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/pathology , Male , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/pathology , Radiography, Thoracic/veterinary , Retrospective Studies , Tomography, X-Ray Computed/veterinary
Intern Med ; 58(7): 955-964, 2019 Apr 01.
Article En | MEDLINE | ID: mdl-30568112

Pulmonary veno-occlusive disease (PVOD) is a rare disease in the subgroup of conditions known as pulmonary arterial hypertension. Although a histological examination is needed for a definitive diagnosis, a non-invasive diagnosis is required for patients with pulmonary hypertension because a lung biopsy is deemed risky. We herein report a 32-year-old woman diagnosed with PVOD via a surgical lung biopsy and autopsy whose disease showed radiological findings mimicking those of hypersensitivity pneumonitis (pneumonia) at the time of the transbronchial lung biopsy, without obvious pulmonary hypertension on admission. When clinicians encounter patients with interstitial lung disease, they should not forget the possibility of PVOD and should be alert for emerging pulmonary hypertension.

Alveolitis, Extrinsic Allergic/diagnosis , Pulmonary Veno-Occlusive Disease/diagnosis , Adult , Autopsy , Biopsy , Diagnosis, Differential , Fatal Outcome , Female , Humans , Hypertension, Pulmonary/etiology , Hypertension, Pulmonary/pathology , Lung/pathology , Pulmonary Veno-Occlusive Disease/complications , Pulmonary Veno-Occlusive Disease/pathology , Radiography, Thoracic , Tomography, X-Ray Computed
Acta Vet Scand ; 60(1): 78, 2018 Dec 05.
Article En | MEDLINE | ID: mdl-30518401

BACKGROUND: Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH) in humans and can be classified in idiopathic, heritable, drug and radiation-induced, and associated with connective tissue disease or human immunodeficiency virus infection. Recently, biallelic mutations of the EIF2AK4 gene have been discovered as a cause for an autosomal recessive form of PVOD in humans. In dogs, PAH is poorly characterized and is generally considered to be idiopathic or secondary to (for example) congenital left-to right cardiovascular shunts or heartworm disease. However, recently, the pathologic features resembling human PVOD were retrospectively described in post-mortem lung samples of dogs presenting with respiratory distress and idiopathic pulmonary hypertension (PH), which suggests that PVOD contributes to an unknown percentage of cases with unexplained PH. In dogs, information on the clinical presentation of PVOD is scarce and the cause and pathogenesis of this disease is still unknown. CASE PRESENTATION: An 11-year-old, intact male German Shepherd dog (GSD) was presented with a 2-day history of acute-onset dyspnea and generalized weakness. Physical examination, laboratory analysis, thoracic radiography, echocardiography, a computed tomography scan and an ante mortem lung biopsy demonstrated severe arterial hypoxemia and severe PH but were not diagnostic for a known disease syndrome. Based on the poor reaction to therapy with oxygen, sildenafil, pimobendan and dexamethasone the dog was euthanized. Histopathology of the lungs showed venous and arterial remodelling, segmental congestion of alveolar capillaries and foci of vascular changes similar to human pulmonary capillary hemangiomatosis, indicating that the dog suffered from PVOD. Whole genome sequencing analysis was performed on the case and a healthy GSD. Validation was performed by Sanger sequencing of five additional GSD's unknown for any form of respiratory stress and aged ≥ 10 years. No causal variants were found in the genes that are known to be involved in human PVOD and PAH. CONCLUSIONS: This case report confirms that PVOD should be a diagnostic consideration in dogs presenting with dyspnea and unexplained PH. In the present case, no casual genetic mutations known to be involved in humans with PVOD and PAH were found.

Dog Diseases/etiology , Hypertension, Pulmonary/veterinary , Pulmonary Veno-Occlusive Disease/veterinary , Animals , Dog Diseases/diagnosis , Dogs , Hypertension, Pulmonary/etiology , Male , Pulmonary Veno-Occlusive Disease/complications , Pulmonary Veno-Occlusive Disease/diagnosis
Int J Clin Pharm ; 40(4): 790-794, 2018 Aug.
Article En | MEDLINE | ID: mdl-30101375

Spontaneous reporting is the primary method used in pharmacovigilance (PV) to detect drug safety signal. Specific criteria used in pharmacovigilance to prove accountability of a drug are rarely present in rare disease. The low number of alerts also makes it challenging. The aim of this commentary is to raise awareness among pharmacists on issues and opportunities for pharmacovigilance in rare diseases, taking pulmonary arterial hypertension (PAH) as example, from which a subset of cases are drug-induced. It is demonstrated how a dedicated program named VIGIAPATH created to reinforce pharmacovigilance of drug-induced pulmonary arterial hypertension at a national level, led to increase self-reporting and confirm safety signals. Thanks to a specific program such as VIGIAPATH, pharmacists can play an important role in communication with clinicians, patients and regulatory agencies, facilitating the detection of potential safety signals at an early stage in rare disease.

Adverse Drug Reaction Reporting Systems , Antibiotics, Antineoplastic/adverse effects , Hypertension, Pulmonary/chemically induced , Mitomycin/adverse effects , Pharmacovigilance , Protein Kinase Inhibitors/adverse effects , Pulmonary Veno-Occlusive Disease/chemically induced , Attitude of Health Personnel , Diagnosis, Differential , Health Knowledge, Attitudes, Practice , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/physiopathology , Interdisciplinary Communication , Patient Safety , Pharmacists/psychology , Predictive Value of Tests , Professional Role , Program Evaluation , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/epidemiology , Pulmonary Veno-Occlusive Disease/physiopathology , Risk Assessment , Risk Factors
Adv Respir Med ; 86(3)2018.
Article En | MEDLINE | ID: mdl-29960280

Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary haemangiomatosis (PCH) are rare disorders, with the estimated prevalence of less than 1 case per million inhabitants. The vascular pathology in PVOD/PCH involves pre-septal and septal veins, alveolar capillaries and small pulmonary arteries. According to the ERS/ESC classification of pulmonary hypertension (PH) from 2015, PVOD/PCH have been included in the subgroup 1' of pulmonary arterial hypertension (PAH). Recent data indicate, however, the possibility of PVOD/PCH pathology in the patients diagnosed in the group 1. The problem may concern PAH associated with scleroderma, drug- induced PAH, PAH due to HIV infection and up to 10% of patients with idiopathic PAH (IPAH). Recently, bi-allelic EIF2AK4 mutations were found in the cases with heritable form of PVOD/PCH and in about 9% of sporadic cases. Moreover, an association between occupational exposure to organic solvents and PVOD/PCH was proved. The present review is an attempt to summarise the current data on pathogenesis, risk factors, clinical features and diagnostic algorithm for PVOD/PCH.

Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/etiology , Algorithms , Humans , Protein-Serine-Threonine Kinases/genetics , Pulmonary Veno-Occlusive Disease/genetics , Risk Factors
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 43(5): 571-576, 2018 May 28.
Article Zh | MEDLINE | ID: mdl-29886475

Pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary vascular disease that causes pulmonary arterial hypertension. The diagnosis of PVOD/PCH can be established by the combination of clinical features, physical examination, radiological findings, lung function, bronchoscopy and other resources. There is no established medical therapy for PVOD/PCH, and the only curative therapy for PVOD/PCH is lung transplantation. A girl with PVOD/PCH was diagnosed in the Second Xiangya Hospital. Combining the characteristics for this case with the relevant literature, we summarized the epidemiology, etiology, diagnosis and treatment for the disease to raise doctors' awareness for this rare disease.

Hemangioma, Capillary , Lung Neoplasms , Pulmonary Veno-Occlusive Disease , Female , Hemangioma, Capillary/complications , Hemangioma, Capillary/diagnosis , Hemangioma, Capillary/therapy , Humans , Hypertension, Pulmonary/etiology , Lung Neoplasms/complications , Lung Neoplasms/diagnosis , Lung Neoplasms/therapy , Pulmonary Artery , Pulmonary Veno-Occlusive Disease/complications , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/therapy
Interact Cardiovasc Thorac Surg ; 27(4): 624-625, 2018 10 01.
Article En | MEDLINE | ID: mdl-29618066

Total anomalous pulmonary venous connection is a rare congenital heart disease. The development of pulmonary venous obstruction is one of the major risk factors for poor outcomes after surgical repair. Sutureless pericardial repair for a total anomalous pulmonary venous connection was introduced to decrease the risk of pulmonary venous obstruction after surgical repair, and favourable outcomes have been reported. Herein, we report the case of an infant with a total anomalous pulmonary venous connection who developed pulmonary venous obstruction after primary sutureless pericardial repair.

Pericardium/surgery , Postoperative Complications , Pulmonary Veins/surgery , Pulmonary Veno-Occlusive Disease/etiology , Scimitar Syndrome/surgery , Sutureless Surgical Procedures/adverse effects , Humans , Infant, Newborn , Male , Pulmonary Circulation , Pulmonary Veins/abnormalities , Pulmonary Veins/diagnostic imaging , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/physiopathology , Reoperation , Tomography, X-Ray Computed
Rev Mal Respir ; 35(2): 160-170, 2018 Feb.
Article Fr | MEDLINE | ID: mdl-29501213

Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterized by preferential remodelling of pulmonary venules and angioproliferation. PVOD term includes idiopathic, heritable (biallelic mutations of EIF2AK4 gene), drugs and toxins induced (alkylating agents, organic solvents) and connectivite-associated forms (especially systemic-sclerosis associated form). PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation. Lung biopsy is contraindicated in PVOD due to high risk of life-threatening bleeding. A noninvasive diagnostic approach, including oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest, is used to support a diagnosis of PVOD. PVOD prognosis is worse than other forms of PAH. There is no evidence-based medical therapy for PVOD and life-threatening pulmonary edema may occur following PAH targeted therapy in PVOD. Lung transplantation remains the preferred definitive therapy for eligible patients.

Pulmonary Veno-Occlusive Disease , Animals , Diagnostic Imaging/methods , Disease Models, Animal , Humans , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/epidemiology , Pulmonary Veno-Occlusive Disease/therapy , Rare Diseases/diagnosis , Rare Diseases/epidemiology , Rare Diseases/therapy , Respiratory Function Tests/methods , Risk Factors
J Cardiol ; 72(3): 255-260, 2018 09.
Article En | MEDLINE | ID: mdl-29548663

BACKGROUND: Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare causes of pulmonary hypertension. Although diagnosis is based on pathological findings, an early diagnosis is crucial because of poor prognosis compared to other types of pulmonary hypertension. Furthermore, vasodilators may cause fatal pulmonary edema in patients with PVOD/PCH. This study aimed to identify specific characteristics for patients with PVOD/PCH to clinically diagnose PVOD/PCH. METHODS: Clinical data were obtained at baseline and were compared between 19 patients with PVOD/PCH and 55 patients with idiopathic/heritable pulmonary arterial hypertension. Receiver operating characteristic analyses were used to determine characteristics specific for patients with PVOD/PCH and a scoring system to diagnose PVOD/PCH was developed. RESULTS: Patients with PVOD/PCH had a smoking history and were predominantly male. Six-minute walk distance was significantly lower and oxygen desaturation was severe during the walk. Diffusion capacity of carbon monoxide was significantly low. Radiological findings included ground glass opacity on chest high-resolution computed tomography (CT) in all patients with PVOD/PCH, and thickened septal lines in 90% of the patients. Lung perfusion scintigraphy showed defect in >70% of the patients. Pulmonary edema after initiation of vasodilation therapy was frequently observed in PVOD/PCH patients. Based on these results, we identified nine important clinical characteristics and a novel scoring system was designed to clinically diagnose PVOD/PCH: male sex, smoking history, 6-minute walk distance<285m, minimum SpO2<92% during the 6-minute walk test, %DLco<34%, ground glass opacity and thickening of the interlobular septa in high-resolution CT, defects in the perfusion lung scan, and pulmonary edema due to vasodilators. Score≥5 points had 95% sensitivity and 98% specificity to predict PVOD/PCH (area under the curve: 0.991; 95% CI: 0.976-1.000). CONCLUSIONS: Our novel prediction rule for diagnosing PVOD/PCH may offer an early clinical diagnosis of these diseases.

Hemangioma, Capillary/diagnosis , Hypertension, Pulmonary/etiology , Lung Neoplasms/diagnosis , Pulmonary Veno-Occlusive Disease/diagnosis , Adult , Area Under Curve , Early Diagnosis , Female , Hemangioma, Capillary/complications , Humans , Hypertension, Pulmonary/physiopathology , Lung/physiopathology , Lung Neoplasms/complications , Male , Middle Aged , Predictive Value of Tests , Pulmonary Artery/physiopathology , Pulmonary Edema/chemically induced , Pulmonary Veno-Occlusive Disease/complications , Sensitivity and Specificity , Smoking , Tomography, X-Ray Computed/methods , Vasodilator Agents/adverse effects , Walk Test
Zhonghua Jie He He Hu Xi Za Zhi ; 41(1): 41-46, 2018 Jan 12.
Article Zh | MEDLINE | ID: mdl-29343015

Objective: To improve the diagnosis and treatment of the pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangioma (PCH). Methods: The clinical features, radiological findings, laboratory testing and treatment in 8 cases of PVOD/PCH which was diagnosed from 2013 to 2017 were described. Results: PVOD/PCH was rare. The clinical symptoms were easily confused with IPAH, but the decrease of hypoxemia, clubbing, D(L)CO were more obvious, and the imaging features of HRCT were helpful for PVOD/PCH diagnosis. Combined with gene testing, it was helpful to diagnose PVOD/PCH and avoid the risk of surgical biopsy. Conclusion: PVOD and PCH are rare type of pulmonary vascular diseases. According to clinical manifestations, physical examination, pulmonary function test results, HRCT imaging, CPET and gene detection results, PVOD or PCH can be diagnosed.

Hemangioma, Capillary/diagnostic imaging , Hypertension, Pulmonary , Lung Neoplasms/pathology , Lung/diagnostic imaging , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/etiology , Hemangioma, Capillary/pathology , Humans , Lung Neoplasms/diagnostic imaging , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Tomography, X-Ray Computed
Rev. esp. enferm. dig ; 109(12): 843-849, dic. 2017. tab, graf, ilus
Article En | IBECS | ID: ibc-169192

Introduction: Different blood gas criteria have been used in the diagnosis of hepatopulmonary syndrome (HPS). Patients and methods: Arterial blood gases were prospectively evaluated in 194 cirrhotic candidates for liver transplantation (LT) in the supine and seated position. Three blood gas criteria were analyzed: classic (partial pressure of oxygen [PaO2] < 70 mmHg and/or alveolar-arterial gradient of oxygen [A-a PO2] ≥ 20 mmHg), modern (A-a PO2 ≥ 15 mmHg or ≥ 20 mmHg in patients over 64) and the A-a PO2 ≥ threshold value adjusted for age. Results: The prevalence of HPS in the supine and seated position was 27.8% and 23.2% (classic), 34% and 25.3% (modern) and 22.2% and 19% (adjusted for age), respectively. The proportion of severe and very severe cases increased in a seated position (11/49 [22.4%] vs 5/66 [7.6%], p = 0.02). No difference was observed in the pre-LT, post-LT and overall mortality in patients with HPS, regardless of the criteria used. Conclusion: Obtaining blood gas measurements in the supine position and the use of modern criteria are more sensitive for the diagnosis of HPS. Blood gas analysis with the patient seated detects a greater number of severe and very severe cases. The presence of HPS was not associated with an increase in mortality regardless of blood gas criterion used (AU)

No disponible

Humans , Hepatopulmonary Syndrome/diagnosis , Patient Positioning/methods , Blood Gas Analysis/methods , Pulmonary Veno-Occlusive Disease/diagnosis , Liver Transplantation , Liver Cirrhosis/etiology , Ascites/etiology , Indicators of Morbidity and Mortality
Cardiol Young ; 27(7): 1402-1405, 2017 Sep.
Article En | MEDLINE | ID: mdl-28782495

A 4-month-old girl with Down syndrome showed unexpected deterioration of pulmonary hypertension. Despite aggressive pulmonary vasodilation therapy, the patient died at 5 months of age. Lung autopsy showed that the pulmonary veins were obliterated by intimal fibrous thickening, and the media of the veins was arterialised with an increase in elastic fibres. Pulmonary veno-occlusive disease should be considered in the management of individuals with Down syndrome.

Down Syndrome/complications , Down Syndrome/pathology , Hypertension, Pulmonary/etiology , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/pathology , Autopsy , Cardiac Catheterization , Fatal Outcome , Female , Humans , Hypertension, Pulmonary/drug therapy , Infant , Lung/pathology , Pulmonary Veins/pathology
Curr Opin Pulm Med ; 23(5): 386-391, 2017 09.
Article En | MEDLINE | ID: mdl-28661905

PURPOSE OF REVIEW: Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene. The 2015 european society of cardiology (ESC) and european respiratory society (ERS) pulmonary hypertension guidelines recommend genetic counselling and testing to adults and children with PAH or PVOD/PCH as well as in adult relatives at risk of carrying a predisposing mutation. RECENT FINDINGS: In France, genetic counseling and testing are offered to all patients displaying sporadic or familial form of PAH or PVOD/PCH and to their relatives at high risk of carrying a predisposing mutation. Patients with a heritable form of PAH are younger at diagnosis with a worse hemodynamic and a dismal prognosis. Patients with a heritable form of PVOD/PCH are younger at diagnosis with a worse response to specific PAH therapies. A program to detect PAH in an early phase was offered to all asymptomatic BMPR2 mutation carriers, according to the 2015 ESC/ERS guidelines. Finally, preimplantation genetic diagnosis has been performed in families with a history of BMPR2 mutations. SUMMARY: Genetic counseling and testing has to be implemented in pulmonary hypertension centers.

Bone Morphogenetic Protein Receptors, Type II/genetics , Familial Primary Pulmonary Hypertension , Genetic Counseling , Hemangioma, Capillary , Hypertension, Pulmonary , Lung Neoplasms , Pulmonary Veno-Occlusive Disease , Caveolin 1/genetics , Europe , Familial Primary Pulmonary Hypertension/diagnosis , Familial Primary Pulmonary Hypertension/genetics , Genetic Counseling/methods , Genetic Counseling/organization & administration , Genetic Testing/methods , Hemangioma, Capillary/diagnosis , Hemangioma, Capillary/genetics , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/genetics , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Mutation , Practice Guidelines as Topic , Protein-Serine-Threonine Kinases/genetics , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/genetics , Risk Assessment/methods