Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency

Lara, Beatríz; Carullón, S. Castillo; Martínez, María Teresa; Reymundo, M. García; Miravitlles, Marc

doi:10.1016/j.anpede.2015.06.019

Cited by 5 publications

(7 citation statements)

References 22 publications

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“…Many repeated articles and those with redundant content were eliminated. Finally, a total of 141 papers were selected . Where deemed appropriate, evidence‐based recommendations of the American College of Chest Physicians Task Force modified by the Canadian Thoracic Society COPD Clinical Assembly Alpha‐1 Antitrypsin Deficiency Expert Working Group were provided (Table ).…”

Section: Methodology Used For the Current Reviewmentioning

confidence: 99%

“…In 1997, the Alpha One International Registry (AIR) was created in Malmo, Sweden . In addition, effective guidelines for diagnosis and management of AAT deficiency have been published in many countries . In more recent years, to measure lung density, high‐resolution computed tomography (CT) was incorporated as a highly sensitive technique into the more classical methods of assessment of emphysema .…”

Section: Historic Perspectivementioning

confidence: 99%

“…In addition, pulmonary function tests show fixed bronchial obstruction with air trapping and diminished lung diffusion capacity. In the US, Canada, Germany, Austria, Spain and Italy, augmentation therapy is available for selected cases, according to established criteria contained in different national and international guidelines .…”

Section: Clinical Expression Of Aat Deficiencymentioning

confidence: 99%

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Role of alpha‐1 antitrypsin in human health and disease

2014

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Alpha‐1 antitrypsin (AAT) deficiency is an under‐recognized hereditary disorder associated with the premature onset of chronic obstructive pulmonary disease, liver cirrhosis in children and adults, and less frequently, relapsing panniculitis, systemic vasculitis and other inflammatory, autoimmune and neoplastic diseases. Severe AAT deficiency mainly affects Caucasian individuals and has its highest prevalence (1 : 2000–1 : 5000 individuals) in Northern, Western and Central Europe. In the USA and Canada, the prevalence is 1: 5000–10 000. Prevalence is five times lower in Latin American countries and is rare or nonexistent in African and Asian individuals. The key to successful diagnosis is by measuring serum AAT, followed by the determination of the phenotype or genotype if low concentrations are found. Case detection allows implementation of genetic counselling and, in selected cases, the application of augmentation therapy. Over the past decade, it has been demonstrated that AAT is a broad‐spectrum anti‐inflammatory, immunomodulatory, anti‐infective and tissue‐repair molecule. These new capacities are promoting an increasing number of clinical studies, new pharmacological formulations, new patent applications and the search for alternative sources of AAT (including transgenic and recombinant AAT) to meet the expected demand for treating a large number of diseases, inside and outside the context of AAT deficiency.

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Section: Methodology Used For the Current Reviewmentioning

confidence: 99%

Section: Historic Perspectivementioning

confidence: 99%

Section: Clinical Expression Of Aat Deficiencymentioning

confidence: 99%

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Role of alpha‐1 antitrypsin in human health and disease

2014

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“…Estas diferencias se han observado también en pacientes en tratamiento con oxigenoterapia crónica domiciliaria, ya que los pacientes con DAAT eran también más jóvenes y con menos comorbilidades 15 . Nuestros datos concuerdan con la información disponible en el registro español de pacientes con DAAT (REDAAT), donde se observa en el momento de la inclusión en el registro una edad media de 50,5 años con un factor acumulado de 26,7 paquetes-año 16 , datos similares también a los del registro italiano 17 . En cambio, los pacientes con EPOC sin DAAT tenían una PCO 2 más alta, debido probablemente a que los pacientes con DAAT presentan afectación fundamentalmente en forma de enfisema basal, que condiciona un menor deterioro del intercambio gaseoso que el enfisema de distribución apical 18,19 .…”

Section: Discussionunclassified

Características de la población candidata a trasplante pulmonar por enfermedad pulmonar obstructiva crónica y por enfisema secundario a déficit de alfa 1 antitripsina

Giacoboni

Barrecheguren

Esquinas

et al. 2015

Archivos de Bronconeumología

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“…In national and international AATD registries, patients with the PI*SZ genotype generally constitute a smaller proportion of the total number of patients (from 1.0 to 21.3%), with the highest number of PI*SZ individuals reported by the Spanish registry (Table 1) [15][16][17][18][19][20][21][22][23][24][25]. However, not all of these individuals have symptomatic disease (index cases), as some registries, e.g., the Danish and Irish targeted detection programmes, conduct screening of family members of diagnosed individuals specifically to identify non-index cases [24,26].…”

Section: Prevalence Of the Pi*sz Genotypementioning

confidence: 99%

Clinical considerations in individuals with α₁-antitrypsin PI*SZ genotype

et al. 2020

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α1-Antitrypsin deficiency (AATD), characterised by reduced levels or functionality of α1-antitrypsin (AAT), is a significantly underdiagnosed genetic condition that predisposes individuals to lung and liver disease. Most of the available data on AATD are based on the most common, severe deficiency genotype (PI*ZZ); therefore, treatment and monitoring requirements for individuals with the PI*SZ genotype, which is associated with a less severe AATD, are not as clear. Recent genetic data suggest the PI*SZ genotype may be significantly more prevalent than currently thought, due in part to less frequent identification in the clinic and less frequent reporting in registries. Intravenous AAT therapy, the only specific treatment for patients with AATD, has been shown to slow disease progression in PI*ZZ individuals; however, there is no specific evidence for AAT therapy in PI*SZ individuals, and it remains unclear whether AAT therapy should be considered in these patients. This narrative review evaluates the available data on the PI*SZ genotype, including genetic prevalence, the age of diagnosis and development of respiratory symptoms compared with PI*ZZ individuals, and the impact of factors such as index versus non-index identification and smoking history. In addition, the relevance of the putative 11 µM “protective threshold” for AAT therapy and the risk of liver disease in PI*SZ individuals is explored. The purpose of this review is to identify open research questions in this area, with the aim of optimising the future identification and management of PI*SZ individuals.

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Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency

Cited by 5 publications

References 22 publications

Role of alpha‐1 antitrypsin in human health and disease

Role of alpha‐1 antitrypsin in human health and disease

Características de la población candidata a trasplante pulmonar por enfermedad pulmonar obstructiva crónica y por enfisema secundario a déficit de alfa 1 antitripsina

Clinical considerations in individuals with α₁-antitrypsin PI*SZ genotype

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Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency

Cited by 5 publications

References 22 publications

Role of alpha‐1 antitrypsin in human health and disease

Role of alpha‐1 antitrypsin in human health and disease

Características de la población candidata a trasplante pulmonar por enfermedad pulmonar obstructiva crónica y por enfisema secundario a déficit de alfa 1 antitripsina

Clinical considerations in individuals with α1-antitrypsin PI*SZ genotype

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Clinical considerations in individuals with α₁-antitrypsin PI*SZ genotype