학술논문
Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease.
Document Type
Academic Journal
Author
Lestelle F; Hospices Civils de Lyon, Centre de Référence Coordinateur Des Maladies Pulmonaires Rares (OrphaLung), Hôpital Louis Pradel, Service de Pneumologie, 69677, Lyon, France.; Beigelman C; Service de Radiologie Et de Radiologie Interventionnelle, Hôpital Universitaire de Lausanne, Université de Lausanne, Lausanne, Suisse.; Rotzinger D; Service de Radiologie Et de Radiologie Interventionnelle, Hôpital Universitaire de Lausanne, Université de Lausanne, Lausanne, Suisse.; Si-Mohamed S; Hospices Civils de Lyon, Hôpital Louis Pradel, Service de Radiologie, Lyon 69677U1206, Université de Lyon, INSA-Lyon, Université Claude Bernard Lyon 1, UJM-Saint Etienne, CNRS, Inserm, CREATIS, UMR 5220, F-69621, 7 Avenue Jean Capelle O, 69100, Villeurbanne, France.; Nasser M; Hospices Civils de Lyon, Centre de Référence Coordinateur Des Maladies Pulmonaires Rares (OrphaLung), Hôpital Louis Pradel, Service de Pneumologie, 69677, Lyon, France.; Wemeau L; Centre de Référence Constitutif Des Maladies Pulmonaires Rares (OrphaLung), CHU Lille, Service de Pneumologie, Lille, France.; Hirschi S; Centre de Compétence Des Maladies Pulmonaires Rares (OrphaLung), CHU Strasbourg, Service de Pneumologie, Strasbourg, France.; Prevot G; Centre de Compétence Des Maladies Pulmonaires Rares (OrphaLung), CHU Toulouse, Hôpital LarreyUniversité Paul Sabatier, Toulouse, France.; Roux A; Service de Pneumologie Et de Transplantation Pulmonaire, Hopital Foch, Suresnes, France.; Bunel V; Service de Pneumologie B Et de Transplantation Pulmonaire, AP-HP, Hôpital Bichat Claude-Bernard, Inserm U1152, Paris, France.; Gomez E; Centre de Compétence Des Maladies Pulmonaires Rares (OrphaLung), CHU Nancy, Service de Pneumologie, Nancy, France.; Sohier L; Centre Hospitalier Bretagne Sud, Service de Pneumologie, Lorient, France.; Pradier HM; Centre de Compétence Des Maladies Pulmonaires Rares (OrphaLung), CHU Rouen, Service de Pneumologie, Rouen, France.; Gaubert MR; Service de Pneumologie Et Transplantation Pulmonaire, CHU Marseille Nord, Aix-Marseille Université Marseille, Assistance Publique-Hôpitaux de Marseille, Marseille, France.; Gondouin A; Centre de Compétence Des Maladies Pulmonaires Rares (OrphaLung), CHU Besançon, Service de Pneumologie, Besançon, France.; Lazor R; Service de Pneumologie, Centre Hospitalier Universitaire Vaudois, Lausanne, CH, Suisse.; Glerant JC; Hospices Civils de Lyon, Hôpital Louis Pradel, Service d'explorations Fonctionnelles Respiratoires, 69677, Lyon, France.; Bejui FT; Hospices Civils de Lyon, Hôpital Louis Pradel, Service d'Anatomopathologie, 69677, Lyon, France.; Colombat M; CHU Toulouse, Institut Universitaire du Cancer de Toulouse, Service d'anatomie Et Cytologie Pathologiques, Toulouse, France.; Cottin V; Hospices Civils de Lyon, Centre de Référence Coordinateur Des Maladies Pulmonaires Rares (OrphaLung), Hôpital Louis Pradel, Service de Pneumologie, 69677, Lyon, France. vincent.cottin@chu-lyon.fr.; UMR754, INRAE; Member of RespiFil and ERN-LUNG, Université, Claude Bernard Lyon 1, Lyon, France. vincent.cottin@chu-lyon.fr.
Source
Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE
Subject
Language
English
Abstract
Background: Light chain deposition disease (LCDD) is a very rare entity. Clinical manifestations of LCDD vary according to the organs involved. Data on pulmonary LCDD are scarce and limited to small series or case reports. This study aimed to describe the characteristics and outcome of diffuse pulmonary non-amyloid LCDD localized to the lungs.
Study Design and Methods: A multicenter retrospective cohort study was conducted. Clinical characteristics were collected, and chest CTs were centrally reviewed. The diagnosis of pulmonary non-amyloid LCDD was confirmed by immunohistochemistry.
Results: Thirty-one cases were identified (68% female), with a median age at diagnosis of 50 years (IQR 20). Baseline FEV1/FVC was < 0.70 in 45% of patients. Mean (± SD) FEV1 and DLCO were 86% ± 26.2 and 52% ± 23.9, respectively. CT revealed peculiar patterns of thin-walled cysts (58%) and thin-walled cystic bronchiectases (27%). Increased serum kappa light chain was found in 87% of patients. Histological analysis showed kappa light chain deposits in all patients, except one with lambda chain deposits. Median annual FEV1 decline was 127 ml (IQR 178) and median DLCO decline was 4.3% (IQR 4.3). Sixteen patients received immunomodulatory treatment or chemotherapy; serum light chain levels decreased in 9 cases (75%), without significant improvement in FEV1 (p = 0.173). Overall, 48% of patients underwent bilateral lung transplantation. Transplant-free survival at 5 and 10 years were 70% and 30%, respectively. An annual FEV1 decline greater than 127 ml/year was associated with increased risk of death or transplantation (p = 0.005).
Conclusions: Diffuse pulmonary LCDD is characterised by female predominance, a peculiar imaging pattern with bronchiectasis and/or cysts, progressive airway obstruction and severe DLCO impairment, and poor outcome. Lung transplantation is a treatment of choice.
(© 2024. The Author(s).)
Study Design and Methods: A multicenter retrospective cohort study was conducted. Clinical characteristics were collected, and chest CTs were centrally reviewed. The diagnosis of pulmonary non-amyloid LCDD was confirmed by immunohistochemistry.
Results: Thirty-one cases were identified (68% female), with a median age at diagnosis of 50 years (IQR 20). Baseline FEV1/FVC was < 0.70 in 45% of patients. Mean (± SD) FEV1 and DLCO were 86% ± 26.2 and 52% ± 23.9, respectively. CT revealed peculiar patterns of thin-walled cysts (58%) and thin-walled cystic bronchiectases (27%). Increased serum kappa light chain was found in 87% of patients. Histological analysis showed kappa light chain deposits in all patients, except one with lambda chain deposits. Median annual FEV1 decline was 127 ml (IQR 178) and median DLCO decline was 4.3% (IQR 4.3). Sixteen patients received immunomodulatory treatment or chemotherapy; serum light chain levels decreased in 9 cases (75%), without significant improvement in FEV1 (p = 0.173). Overall, 48% of patients underwent bilateral lung transplantation. Transplant-free survival at 5 and 10 years were 70% and 30%, respectively. An annual FEV1 decline greater than 127 ml/year was associated with increased risk of death or transplantation (p = 0.005).
Conclusions: Diffuse pulmonary LCDD is characterised by female predominance, a peculiar imaging pattern with bronchiectasis and/or cysts, progressive airway obstruction and severe DLCO impairment, and poor outcome. Lung transplantation is a treatment of choice.
(© 2024. The Author(s).)