Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.

Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.

End-of-life care in COPD: a survey carried out with Portuguese pulmonologists.

INTRODUCTION: End-of-life (EoL) care is a major component in the management of patients with advanced COPD. Patient-physician communication is essential in this process. AIM: To evaluate the practice of Portuguese Pulmonologists in EoL communication and palliative care in COPD. METHODS: An on-line survey was sent to physicians affiliated to the Portuguese Pneumology Society. RESULTS: We obtained 136 answers from 464 eligible participants (29.3%). About half of the physicians reported that they have rarely introduced EoL discussions with their COPD patients (48.5%). Most had never/rarely suggested decision-making on the use of invasive mechanical ventilation (68.4%). Discussions were described as occurring mostly during/after a major exacerbation (53.7%). Only 37.5% of participants reported treating dyspnoea with opioids frequently/always. Only 9.6% stated that they never/rarely treated anxiety/depression. Most participants perceive the discussion of EoL issues as being difficult/very difficult (89.0%). The reasons most frequently given were feeling that patients were not prepared for this discussion (70.0%), fear of taking away a patient's hope (58.0%) and lack of training (51.0%). CONCLUSION: Patient and medical staff EoL communication in COPD is still not good enough. Training in this area and the creation of formal protocols to initiate EoL have been identified as major factors for improvement.

[Extrapulmonary tuberculosis]. / Tuberculose extrapulmonar.

Although the respiratory tract is the major site for tuberculous lesions, all organs can be affected. The authors review the clinical files of 25 patients admitted to our Department with lung and/or pleural tuberculous disease, confirmed by bacteriology or histopathology, who simultaneously suffered from tuberculosis in other organs. We included 20 men and 5 women, aged from 10 to 74 years (mean: 37.12 years); 6 patients had pleural tuberculosis, 19 had pulmonary tuberculosis, 4 of them having miliary tuberculosis. Lymph node tuberculosis was diagnosed in 14 patients, tuberculosis of the bones in 4, laryngeal tuberculosis in 3 patients, tuberculous pericarditis in 2 patients, epididymitis in 1 and intestinal in another patient. Several clinical aspects are discussed, namely diagnostic procedures, M. tuberculosis identification in inflammatory exudates in 6 patients, in urine in 1, and in histopathology in 9 patients; in the 9 remaining patients extrapulmonary tuberculosis was accepted considering clinical and radiological findings in patients with respiratory tract tuberculosis. We concluded that tuberculosis may still assume severe clinical forms and that patients with tuberculosis should be globally evaluated.