Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patien...

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Published in:Orphanet journal of rare diseases 2021-02, Vol.16 (1), p.72-72, Article 72
Main Authors: McCarthy, Cormac, Bugnet, Emmanuelle, Benattia, Amira, Keane, Michael P, Vedie, Benoit, Lorillon, Gwenaël, Tazi, Abdellatif
Format: Article
Language:English
Subjects:
Alleles
Alpha 1-antitrypsin
Alpha 1-antitrypsin deficiency
Carbon monoxide
Complications and side effects
Computed tomography
Cysts
Dendritic cells
Emphysema
Extracellular matrix
Genotype & phenotype
Health aspects
Histiocytosis
Langerhans cell histiocytosis
Letter to the Editor
Lung diseases
Measurement
Medical research
Mutation
Pathogenesis
Phenotypes
Population studies
Rare diseases
Respiratory function
Risk factors
Smoking
Statistics
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container_title Orphanet journal of rare diseases
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creator McCarthy, Cormac
Bugnet, Emmanuelle
Benattia, Amira
Keane, Michael P
Vedie, Benoit
Lorillon, Gwenaël
Tazi, Abdellatif
description Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patients and whether serum alpha-1 antitrypsin levels correlated with markers of disease severity. Fifty PLCH patients, 24 with a diffuse cystic lung pattern and 26 with a typical nodulo-cystic pattern on imaging were included. The mean alpha-1 antitrypsin levels were in normal range for both the population with diffuse cystic lung pattern population (1.39 g/L ± 0.37) and the nodulo-cystic pattern group (1.41 g/L ± 0.21). Deficiency alleles PiZ and PiS were 1% and 2% respectively in the entire study population of 50 patients, demonstrating no increased incidence of alpha-1 antitrypsin deficiency in PLCH. Alpha-1 antitrypsin levels showed no correlation with lung function parameters or extent of cystic lesions on lung computed tomography.
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subjects Alleles
Alpha 1-antitrypsin
Alpha 1-antitrypsin deficiency
Carbon monoxide
Complications and side effects
Computed tomography
Cysts
Dendritic cells
Emphysema
Extracellular matrix
Genotype & phenotype
Health aspects
Histiocytosis
Langerhans cell histiocytosis
Letter to the Editor
Lung diseases
Measurement
Medical research
Mutation
Pathogenesis
Phenotypes
Population studies
Rare diseases
Respiratory function
Risk factors
Smoking
Statistics
title Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency
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