Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations

At any age, respiratory manifestations are a major cause of increased morbidity and mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable, this depending on the type of the underlying disorder. Symptoms and signs originating from upper or lower airways and/or thoracic wall and/or respiratory muscles involvement can occur either at presentation or in the late clinical course. Acute respiratory symptoms can trigger metabolic decompensation which, in turn, makes airway symptoms worse, creating a vicious circle. We have identified 181 IMDs associated with various types of respiratory symptoms which were classified into seven groups according to the type of clinical manifestations affecting the respiratory system: (i) respiratory failure, (ii) restrictive lung disease, (iii) interstitial lung disease, (iv) lower airway disease, (v) upper airway obstruction, (vi) apnea, and (vii) other. We also provided a list of investigations to be performed based on the respiratory phenotypes and indicated the therapeutic strategies currently available for IMD-associated airway disease. This represents the thirteenth issue in a series of educational summaries providing a comprehensive and updated list of metabolic differential diagnoses according to system involvement.

Automated summary

Respiratory manifestations are a major cause of morbidity and mortality in inherited metabolic diseases (IMDs). The type and severity of symptoms vary depending on the underlying disorder. There are 181 IMDs associated with respiratory symptoms, classified into seven groups based on clinical manifestations: respiratory failure, restrictive lung disease, interstitial lung disease, lower airway disease, upper airway obstruction, apnea, and other. Investigations and therapeutic strategies for IMD-associated airway disease are provided.