Respiratory manifestations in patients with inherited metabolic diseases

Abstract

Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases, either at presentation or as late-onset features. This review will describe the most exemplary respiratory manifestations of inherited metabolic diseases in childhood and adulthood. Since airways disease worsens the morbidity of many inherited metabolic disorders, leading to increased hospitalisations, mortality and overall healthcare costs, respiratory manifestations of inherited metabolic diseases need to be carefully recognised and treated. All patients with inherited metabolic disease and suspected airway disease should undergo a detailed diagnostic work-up. Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. The integration of several specialists dedicated to airway disease management in a multidisciplinary team is essential to provide the most appropriate care to children and adults with inherited metabolic disease. @ERSpublications Proper management of respiratory disease is mandatory for reducing morbidity and mortality of inherited metabolic disease

Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience

“…Upper airway (macroglossia, pharyngeal narrowing, adenotonsillary hypertrophy, laryngomalacia) and lower airway (subglottic stenosis, tracheomalacia, bronchomalacia, bronchitis, pneumonia) involvements result from GAG deposition. Restrictive lung disease due to skeletal abnormalities (eg, kyphosis, scoliosis, abnormal ribs, and vertebral bodies) and abdominal distention is frequently observed . Respiratory disorders including OSAS are amongst the main reasons of morbidity and mortality .…”

“…Reported cases of Pompe disease mention diaphragm weakness with sleep‐disordered breathing and respiratory failure . PH may also co‐exist and worsen the clinical course . Additionally, type 2 GSD disease may also present with CMP.…”

“…Inherited metabolic diseases (IMD) are rapidly increasing in number as new molecular and biochemical diagnostic tests become available. Respiratory system manifestations may occur in many IMD, either as an initial presentation or in the follow‐up, and strongly relate with increased morbidity and mortality . Thus, correct diagnosis and intervention of respiratory manifestations of IMD are of extreme importance.…”

“…Several IMD, glycogenosis and LSDs, such as mucopolysaccharidoses (MPS), may lead to alveolar hypoventilation by causing respiratory muscle weakness, disruption of respiratory mechanics and/or chest or spine deformities . Involvement of the neuromuscular system in some IMD (eg, LSDs, mitochondrial diseases, and organic acidemias) frequently lead to chronic airway aspiration and development of LRTI . Pulmonary hypertension is described in LSD, glycogenosis and nonketotic hyperglycinemia .…”

“…2,11 Involvement of the neuromuscular system in some IMD (eg, LSDs, mitochondrial diseases, and organic acidemias) frequently lead to chronic airway aspiration and development of LRTI. 1 Pulmonary hypertension is described in LSD, glycogenosis and nonketotic hyperglycinemia. 12,13 Craniofacial abnormalities and upper/middle airway soft tissue deposition in some LSDs account for UAO ± OSAS.…”