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Respir Med Res ; 78: 100759, 2020 Apr 28.
Article En | MEDLINE | ID: mdl-32866719
Rev Mal Respir ; 37(6): 497-501, 2020 Jun.
Article Fr | MEDLINE | ID: mdl-32482379

INTRODUCTION: Thymomas are epithelial neoplasms of thymic origin, preferentially localized in the anterior mediastinum. Recurrences after surgery are uncommon and usually occur in the intrathoracic area. The occurrence of extra-thoracic metastases is an unusual phenomenon. CASE REPORT: Here we report the case of a 61-year-old man with no special medical history. He smoked about 40 pack years but stopped in 1999. Initially he presented with a mediastinal thymoma and underwent surgical resection. One year later the development of abdominal pain and bowel disorders lead to the discovery of an ileal ulcero-necrotic tumour. After surgical resection, histological examination revealed secondary thymoma. A few months later he underwent cerebral MRI because of neurological symptoms. This revealed a second metastasis located in the brain. Stereotactic radiotherapy led to an improvement. After more than one year of follow-up the patient developed a papillary thyroid carcinoma but there were no signs of recurrence of the thymoma. CONCLUSIONS: Extra-thoracic metastases of thymoma are exceptional but their existence should not be overlooked. Their management is not standardised because of lack of data in the literature. Though surgical excision in oligo-metastatic subjects is a frequently reported therapeutic option, a radiotherapeutic approach, particularly in cerebral situations, could be a credible alternative.

Brain Neoplasms/secondary , Ileal Neoplasms/secondary , Thymoma/pathology , Thymus Neoplasms/pathology , Brain/diagnostic imaging , Brain/pathology , Brain Neoplasms/radiotherapy , Brain Neoplasms/surgery , Combined Modality Therapy , Humans , Ileal Neoplasms/radiotherapy , Ileal Neoplasms/surgery , Ileum/diagnostic imaging , Ileum/pathology , Male , Middle Aged , Thymoma/diagnosis , Thymoma/radiotherapy , Thymoma/surgery , Thymus Neoplasms/diagnosis , Thymus Neoplasms/radiotherapy , Thymus Neoplasms/surgery
Orphanet J Rare Dis ; 15(1): 120, 2020 05 24.
Article En | MEDLINE | ID: mdl-32448321

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD. RESULTS: Ninety-five percent of BHD patients had multiple pulmonary cysts on computed tomography and 59% had experienced at least one pneumothorax. Mean values of forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), FEV1/FVC ratio, and total lung capacity were normal at baseline. Mean (standard deviation) residual volume (RV) was moderately increased to 116 (36) %pred at baseline, and RV was elevated > 120%pred in 41% of cases. Mean (standard deviation) carbon monoxide transfer factor (DLco) was moderately decreased to 85 (18) %pred at baseline, and DLco was decreased < 80%pred in 33% of cases. When adjusted for age, gender, smoking and history of pleurodesis, lung function parameters did not significantly decline over a follow-up period of 6 years. CONCLUSIONS: Cystic lung disease in BHD does not affect respiratory function at baseline except for slightly increased RV and reduced DLco. No significant deterioration of lung function occurs in BHD over a follow-up period of 6 years.

Rev Mal Respir ; 37(2): 171-179, 2020 Feb.
Article Fr | MEDLINE | ID: mdl-32061440

Right ventricular failure (RVF) is a common cause of admission to the intensive care unit and its presence is a major prognostic factor in acute pulmonary embolism (PE) and chronic pulmonary hypertension (PH). RVF results from an incapacity of the RV to adapt to an increase in afterload so it can become critical in acute PE and chronic PH. The presence of RVF in cases of acute PE with haemodynamic instability is an indication for thrombolytic therapy. RVF represents the most common cause of death in chronic PH. Factors triggering RV failure in PH, such as infection, PE, arrhythmias, or unplanned withdrawal of pulmonary arterial hypertension (PAH)-targeted therapy, have to be considered and treated if identified. However, RVF may also represent progression to end-stage disease. The management of RVF in patients with PH requires expertise and consists of optimization of fluid balance (with diuretics), cardiac output (with inotropic support such as dobutamine), perfusion pressure (with norepinephrine), and reduction of RV afterload with PAH-targeted therapies. Extracorporeal life support, lung transplantation or heart-lung transplantation should be considered in cases of refractory RVF in eligible patients.

Hypertension, Pulmonary/therapy , Pulmonary Embolism/therapy , Vascular Diseases/therapy , Ventricular Dysfunction, Right/therapy , Acute Disease , Critical Care/methods , Extracorporeal Membrane Oxygenation , Heart Failure/epidemiology , Heart Failure/etiology , Heart Failure/therapy , Heart-Lung Transplantation , Humans , Hypertension, Pulmonary/complications , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/physiopathology , Intensive Care Units , Lung Transplantation , Pulmonary Circulation/physiology , Pulmonary Embolism/complications , Pulmonary Embolism/epidemiology , Pulmonary Embolism/physiopathology , Vascular Diseases/complications , Vascular Diseases/epidemiology , Vascular Diseases/physiopathology , Ventricular Dysfunction, Right/complications , Ventricular Dysfunction, Right/epidemiology , Ventricular Dysfunction, Right/physiopathology
Respir Med Res ; 76: 48-53, 2019 Nov.
Article En | MEDLINE | ID: mdl-31557688

Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by cutaneous capillary malformations, soft tissue and bone hypertrophy, and multiple capillary, venous or lymphatic malformations. KTS is associated with recurrent thromboembolic events. We reported herein five cases of chronic thromboembolic pulmonary hypertension (CTEPH) associated with KTS (age minimum-maximum 26-50 years old, 3 males/2 females). Hemodynamics showed severe pulmonary hypertension (PH) with pulmonary vascular resistance ranging from 5.6 to 18.3 Wood units (WU), associated with marked clinical impairment (NYHA functional class III or IV in 4 patients). Computed tomography (CT) of the chest and pulmonary angiography confirmed proximal CTEPH accessible to surgical intervention in one patient and distal forms of CTEPH in 4 patients. Evolution after pulmonary endarterectomy showed hemodynamic normalization, while the patients with distal CTEPH had severe outcomes with 2 early deaths after PH diagnosis (44 and 35 months respectively). One patient with distal CTEPH was still alive 16 years after diagnosis on specific PH therapy and one was transplanted after 15 years because of right heart failure (death after 12 months). Histological analysis of the lung explants showed typical chronic thromboembolic material specific for CTEPH. In conclusion, KTS may be complicated by severe CTEPH requiring careful anticoagulation and multidisciplinary follow-up in expert centers to screen for disease potentially accessible to endarterectomy. In the modern management era of CTEPH, balloon pulmonary angioplasty will certainly be an interesting option in patients with inoperable disease.

Hypertension, Pulmonary/etiology , Klippel-Trenaunay-Weber Syndrome/complications , Pulmonary Embolism/etiology , Adult , Chronic Disease , Female , Humans , Hypertension, Pulmonary/diagnosis , Klippel-Trenaunay-Weber Syndrome/diagnosis , Male , Middle Aged , Pulmonary Embolism/diagnosis , Thromboembolism/diagnosis , Thromboembolism/etiology
Rev Med Interne ; 39(12): 925-934, 2018 Dec.
Article Fr | MEDLINE | ID: mdl-30174113

About 70% patients waiting for liver transplantation have a dyspnea. Two pulmonary vascular disorders can be associated with portal hypertension or chronic liver diseases: portopulmonary hypertension (PoPH) related to pulmonary small arteries remodeling and obstruction and hepatopulmonary syndrome (HPS) characterized by pulmonary capillaries dilatations and proliferations. PoPH is defined by the combination of pulmonary arterial hypertension (PAH) (mean pulmonary artery pressure [PAP]≥25mmHg, with normal pulmonary artery wedge pressure≤15mmHg and pulmonary vascular resistance [PVR]>3 Wood units [WU]) and portal hypertension. HPS is a triad of intrapulmonary vascular dilatations, hypoxemia (increased alveolar-arterial oxygen gradient) and liver disease or isolated portal hypertension. The pathophysiology of both syndromes is complex and poorly understood. PoPH and HPS have a negative impact on functional and vital prognosis in patients with portal hypertension. Liver transplantation is the established treatment standard in HPS. PoPH treatment is improved over the years with the use of specific PAH treatment despite the lack of randomized assay in this indication. Liver transplantation could be considered in PoPH leading to stabilization, improvement or recovery in selected patients (mean PAP<35mmHg without severe right ventricular dysfunction and PVR<4 WU).

Liver Diseases , Lung Diseases , Vascular Diseases , Hepatopulmonary Syndrome/diagnosis , Hepatopulmonary Syndrome/epidemiology , Hepatopulmonary Syndrome/therapy , Humans , Hypertension, Portal/diagnosis , Hypertension, Portal/epidemiology , Hypertension, Portal/therapy , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/therapy , Liver Diseases/complications , Liver Diseases/diagnosis , Liver Diseases/epidemiology , Liver Diseases/therapy , Lung Diseases/complications , Lung Diseases/diagnosis , Lung Diseases/epidemiology , Lung Diseases/therapy , Vascular Diseases/complications , Vascular Diseases/diagnosis , Vascular Diseases/epidemiology , Vascular Diseases/therapy , Vascular Resistance/physiology
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
Rev Mal Respir ; 33(6): 460-73, 2016 Jun.
Article En | MEDLINE | ID: mdl-26868668

INTRODUCTION: Type 1 neurofibromatosis is one of the most common genetic diseases, with an incidence of 1/3500 live births. Its diagnosis primarily relies on the clinical features of the condition. CURRENT KNOWLEDGE: The life expectancy of these patients is reduced by 10 years, on average, compared to the general population. Type 1 neurofibromatosis has been shown to increase the risk of various types of neoplasia, primarily those affecting the neural crest. In addition, interstitial lung disease, lung cancer, and pulmonary hypertension have been observed during the third or the fourth decade of an adult's life. PERSPECTIVES: There are only few case reports available that address the pulmonary complications of neurofibromatosis type 1. It is thus crucial to fully understand this rare disease and its potential complications in order to allow for early diagnosis so we are able to improve the quality of life and survival of those suffering from the condition. CONCLUSIONS: The pulmonary complications of type 1 neurofibromatosis can be severe and life-threatening. Patients with this condition should thus undergo regular clinical visits and examinations to allow pulmonary complications to be detected and treatment to be initiated as early as possible.

Lung Diseases/etiology , Neurofibromatosis 1/complications , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/etiology , Lung Diseases/diagnosis , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/etiology , Lung Neoplasms/diagnosis , Lung Neoplasms/etiology , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/genetics , Rare Diseases
Rev Mal Respir ; 32(6): 618-28, 2015 Jun.
Article Fr | MEDLINE | ID: mdl-26231412

Antisynthetase syndrome is an inflammatory myopathy frequently associated with pulmonary manifestations, especially interstitial lung diseases, and uncommonly pulmonary hypertension. In the context of a suggestive clinical and radiological picture, positive anti-RNA synthetase antibodies confirm the diagnosis. Anti-Jo1, anti-PL7, and anti-PL12 antibodies are the more commonly encountered. The presence of a number of extra-thoracic manifestations in association with pulmonary disease may suggest the diagnosis. These include: myalgia or muscular deficit, Raynaud's phenomenon, polyarthritis, fever, mechanics hands. Serum creatine kinase levels are usually increased. Electromyogram, muscular magnetic resonance imaging or muscle pathology are not mandatory to make the diagnosis. There is a high variability in symptoms and severity, between patients but also during the course of the disease in the same patient. The presence of an interstitial lung disease is a major prognostic factor and an indication for more intensive treatment, principally with systemic corticosteroids with or without immunosuppressive drugs. Improving respiratory physicians' knowledge of this disease, which is often revealed by its pulmonary manifestations, should help diagnosis, therapeutic management, and possibly prognosis.

Hypertension, Pulmonary/etiology , Lung Diseases, Interstitial/etiology , Myositis/complications , Disease Progression , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/epidemiology , Myositis/diagnosis , Myositis/epidemiology , Prognosis , Radiography, Thoracic , Raynaud Disease/diagnosis , Raynaud Disease/epidemiology , Raynaud Disease/etiology
Rev Mal Respir ; 31(7): 621-3, 2014 Sep.
Article Fr | MEDLINE | ID: mdl-25239584

Type 1 neurofibromatosis (NF1) is a hereditary disease inherited as an autosomal dominant. Respiratory involvement is rare. We report the case of a woman suffering from NF1 with mutation of the corresponding gene and with respiratory involvement combining diffuse parenchymatous lesions, severe precapillary pulmonary hypertension and an enlarging, spiculated pulmonary nodule, very suspicious of malignancy, though histological examination was not possible on account of the patient's poor respiratory function. There was progressive deterioration of the patient's respiratory condition, leading to death, despite the introduction of oral therapy combining a phosphodiesterase 5 inhibitor and an endothelin receptor antagonist. Our case illustrates the development of multiple severe respiratory pathologies in the setting of NF1. The specific contribution of the NF1 gene mutation in the pathophysiology of these different pulmonary manifestations needs to be examined in detail.

Lung Diseases/etiology , Lung Neoplasms/complications , Neurofibromatosis 1/complications , Female , Humans , Middle Aged , Severity of Illness Index
Clin Pharmacol Ther ; 95(6): 583-5, 2014 Jun.
Article En | MEDLINE | ID: mdl-24842639

Bosentan is an endothelin receptor antagonist used as a first-line treatment in pulmonary arterial hypertension (PAH). Its main adverse effect is a dose-dependent liver toxicity. CYP2C9*2 has recently been shown to be associated with hepatotoxicity in PAH patients. We conducted a nested case-control study to further explore the relationship between functional polymorphisms of gene products involved in bosentan pharmacokinetics (OATP1B1, OATP1B3, and CYP2C9) or hepatobiliary transporters affected by bosentan (ABCB11) and bosentan-induced liver toxicity.

Aryl Hydrocarbon Hydroxylases/genetics , Chemical and Drug Induced Liver Injury/etiology , Endothelin Receptor Antagonists , Hypertension, Pulmonary/drug therapy , Sulfonamides/adverse effects , Female , Humans , Male
Rev Mal Respir ; 29(4): 491-500, 2012 Apr.
Article Fr | MEDLINE | ID: mdl-22542407

Pulmonary arterial hypertension (PAH) is a rare but potentially fatal complication of human immunodeficiency virus (HIV). It may occur in HIV-1 or 2 infection, irrespective of the route of transmission or the degree of immunosuppression. The improved survival of patients infected with HIV in the era of highly active antiretroviral therapy (HAART) justifies systematic screening for PAH according to an algorithm in patients with unexplained dyspnea. In all cases, right heart catheterization must be performed to establish the definitive diagnosis of pulmonary hypertension. The prevalence of PAH is about 0.5% in patients with HIV infection. A beneficial effect of HAART on the course of HIV-related PAH has not been clearly established. In contrast, PAH-specific therapies such as epoprostenol and bosentan have been demonstrated to be efficacious for short- and long-term outcomes in this context. Notably, some patients pulmonary hemodynamics and functional class normalized or near normalized with these treatments. Other PAH-specific therapies remain to be evaluated. The advent of HAART associated with the development of PAH-specific therapies has improved the prognosis of patients HIV-related PAH, with a survival rate of about 70% at 3 years.

HIV Infections/complications , HIV-1/physiology , Hypertension, Pulmonary/etiology , Diagnostic Techniques, Cardiovascular , Diagnostic Techniques, Respiratory System , HIV Infections/diagnosis , HIV Infections/epidemiology , HIV Infections/therapy , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/therapy , Models, Biological