RESUMEN
INTRODUCTION: Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease. STATE OF THE ART: Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene. Its clinical expression always consists in a substantial reduction of alpha 1-antitrypsin serum concentration and its variants are analyzed by isoelectric focalization or molecular techniques. Assessed by CO transfer alteration and CT scan, risk of pulmonary emphysema is increased by tobacco consumption. Assessed by transient elastography and liver ultrasound, risk of liver disease is increased by alcohol consumption or obesity. Treatment of COPD-associated alpha 1-antitrypsin deficiency does not differ from that of other forms of COPD. In patients presenting with severe deficiency, augmentation therapy with plasma-derived alpha 1-antitrypsin reduces the progression of emphysema, as shown in terms of CT-based lung density metrics. Patients with alpha 1-antitrypsin deficiency with a ZZ genotype should refrain from alcohol or tobacco consumption, and watch their weight; so should their close relatives. PERSPECTIVES: Modulation of alpha 1-antitrypsin liver production offers an interesting new therapeutic perspective. CONCLUSION: Homozygous (Z) variants of the SERPINA1 gene confer an increased risk of pulmonary emphysema and liver disease, particularly among smokers, drinkers and obese persons.
Asunto(s)
Enfisema Pulmonar , Deficiencia de alfa 1-Antitripsina , Genotipo , Humanos , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/epidemiología , Enfisema Pulmonar/etiología , alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/complicaciones , Deficiencia de alfa 1-Antitripsina/diagnóstico , Deficiencia de alfa 1-Antitripsina/epidemiologíaRESUMEN
INTRODUCTION: Lung volume reduction can be effective in appropriately selected patients with severe emphysema and is associated with reduced breathlessness and improved survival. Spontaneous resolution of emphysematous bullae can also sometimes occur. CASE REPORT: We report a case of severe smoking-related emphysema in a 60-year-old patient, who presented in October 2013 with a right upper lobe acute community-acquired pneumonia on the background of previously undocumented emphysema. The patient improved following treatment with co-amoxiclav and serial radiology showed progressive cicatricial retraction. Nine months later there had been a major functional improvement characterized by a complete normalization of the patient's ventilatory parameters, specifically a 45% improvement in FEV1. In the literature, the average FEV1 improvement obtained by surgical or endoscopic lung volume reduction techniques does not exceed 28%. CONCLUSION: Rarely, emphysematous bullae resolve following infections. Further studies of the mechanisms involved in these natural regressions may be of interest in the development of new therapeutics.
Asunto(s)
Neumonía Asociada a la Atención Médica/complicaciones , Neumonía Asociada a la Atención Médica/patología , Pulmón/patología , Enfisema Pulmonar/complicaciones , Enfisema Pulmonar/patología , Enfermedad Aguda , Broncoscopía/métodos , Volumen Espiratorio Forzado , Neumonía Asociada a la Atención Médica/diagnóstico , Neumonía Asociada a la Atención Médica/cirugía , Humanos , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Neumonectomía , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/cirugía , Pruebas de Función Respiratoria , FumadoresRESUMEN
INTRODUCTION: If pulmonary complications of tobacco smoking are well documented, those associated with cannabis use are less known. OBJECTIVES: Systematic literature review of data on pneumothorax and lung emphysema in cannabis users. DOCUMENTARY SOURCES: Medline, on the period 1980-2018 with the following keywords cannabis or marijuana and pneumothorax or emphysema, limits "title/abstract". Among 97 articles, 42 abstracts have given use to a dual reading to select 20 studies. RESULTS: Eighteen case reports (8 with SP) showed bullae in the upper lobes in combined cannabis and tobacco smokers (CS) and in the 2 cannabis only smokers (COS). The risk of SP was increased in CS, but not in COS. In patients less than 35-years old presenting with SP, the incidence of bullae on thoracic computed tomography (CT) was higher in CS than in tobacco only smokers (TOS). CT in patients with SP showed no significant difference as regards of the prevalence, location and type of emphysema between CS and TOS. Proportion of low lung density areas was higher in CS than in non-smokers (NS), but was similar in TOS and NS. CONCLUSION: These results suggest a cumulative toxic effect of tobacco and cannabis on the risk of SP and lung emphysema.