Luís Rodrigues

Primary Pleural Lymphoma

Fig. 1. (A) Chest CT (axial plan (AP)): extensive right pleural effusion conditioning almost complete atelectasis of the middle and lower lobes. No mediastinal or hilar pulmonary lymphadenopathies were found. (B) Medical thoracoscopy: pericentrimetric macular lesions with multifocal distribution and stony consistency

Can we change a genetically determined future

We describe the clinical evolution of the first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by a rare null allele (Q0Ourém), over the past 18 years. We highlight the clinical course of the disease as well as the evolution of the pulmonary function tests from initial diagnosis and the benefits of augmentation therapy for this specific condition. We report the case of a 43-year-old man with exertion dyspnoea who was observed in our pulmonology unit. The unexpected findings in the complementary examinations led us to diagnose AAT deficiency and to the discovery of a new mutation with the SERPIN A1 gene (hence named Q0Ourém) responsible for the disease. Augmentation therapy was initiated, as is the protocol in this condition. Eighteen years after the diagnosis, the patient is clinically stable, fully autonomous and maintaining an acceptable quality of life, despite severe obstructive lung disease.

Pleural effusion: what lies underneath?

Malignant mesothelioma is a tumour of serous surfaces mainly arising at the pleura or the peritoneum. The diagnosis encompasses multiple problems as there is no pathognomonic hallmark for the disease, there are multiple histological types and the differentiation from other tumours, such as adenocarcinoma or metastatic pleural disease, can represent quite a challenge. Usually a diagnosis of malignant mesothelioma carries a dismal prognosis with scarce therapeutical options. The present report concerns a patient with a diagnosis of malignant pleural mesothelioma with endobronchial extension. Biopsy specimens were obtained through fibreoptic bronchoscopy and blind needle pleural biopsy. The final diagnosis was only possible after careful histological evaluation with a combination of immunohistochemical markers.