Open AccessPulmonary Involvement in Adult Patients with Inborn Errors of Metabolism
Author(s) -
Christel Tran,
Frédéric Barbey,
Romain Lazor,
Luisa Bonafé
Publication year - 2017
Publication title -
respiration
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.264
H-Index - 81
eISSN - 1423-0356
pISSN - 0025-7931
DOI - 10.1159/000475762
Subject(s) - medicine , disease , life expectancy , intensive care medicine , pediatrics , respiratory disease , lung , respiratory system , interstitial lung disease , lung disease , quality of life (healthcare) , affect (linguistics) , population , linguistics , philosophy , nursing , environmental health
Inborn errors of metabolism (IEM) are rare individually, but taken together, they affect 1 in 1,000 people. Most of the disease becomes apparent at the pediatric age; however, with the identification of late-onset forms, and with improved survival, several of these conditions may be found in adults of all ages. While the lung is not typically a primary site of clinical disease in patients with IEM, in some of them it can be a significantly affected organ with associated severe respiratory complications. Lung involvement can be a late- onset feature of a complex multisystemic disease, but sometimes it can also be the only manifestation of underlying IEM. The aim of this review is to focus on specific IEM associated with lung disease in adults and to provide the reader with an overview of the diagnostic workup, overall disease management, and specific treatments for the respiratory manifestations. Clinical suspicion, early recognition, prompt diagnosis, and appropriate care of the respiratory manifestation are crucial, as they can affect both the life expectancy and the quality of life of these patients.