TABLE 1.
Trait | Main diseases that share the trait | Clinical features | Laboratory/physiological features | Targeted treatment |
Chronic infection | Protracted bacterial bronchitis | Chronic wet cough | Growth of pathogens in respiratory secretions | Antimicrobials |
Chronic bronchitis (COPD) | ||||
Ciliary dyskinesia | PCD | Young age of symptom onset, chronic otitis media, situs abnormalities, male infertility (asthenospermia), sinusitis | Low nasal NO, electron microscopic abnormalities, abnormal ciliary beating pattern | Inhaled saline, airway clearance, ongoing trial of ENaC inhibition |
Secondary ciliary dyskinesia# | ||||
CFTR dysfunction/deficiency | CF | Young age of symptom onset, pancreatitis, malnutrition, bowel obstruction, male infertility (azoospermia), sinusitis | Elevated sweat chloride, characteristic electrophysiological abnormalities, CFTR mutations on two alleles | CFTR modulators |
CFTR-related disorder | ||||
Secondary CFTR dysfunction# | ||||
Immune deficiency | Primary immune deficiencies | Young age of symptom onset, infection in extrapulmonary sites | Immunoglobulin deficiencies, impaired tests of immune function | IVIG |
Secondary immune deficiencies | Haematological malignancies | |||
Systemic inflammation | Rheumatoid arthritis | Symmetric arthritis, morning stiffness | Rheumatoid factor | DMARDs, CS, anti-TNF-α |
IBD | Bloody diarrhoea, weight loss, GI ulceration | Endoscopic appearance and histology | Aminosalicylates, CS, anti-TNF-α | |
Eosinophilic inflammation | Asthma | Seasonality | Airway reversibility | ICS, bronchodilators, anti-IgE, anti-IL-5 |
CRS | Chronic nasal discharge, loss of smell, facial pain | Sinus inflammation on endoscopy, sinus CT | ||
ABPA | Wheeze, mucus plugs | Elevated IgE, Aspergillus spp. sensitisation | ||
Gastro-oesophageal reflux | GORD | Symptoms of heartburn and reflux | Endoscopic, motility and imaging studies | Behavioural measures, proton-pump inhibitors, surgery |
Examples of features of bronchiectasis that define a subgroup of patients. These may be viewed as “treatable traits” and some are shared with other disease entities. CFTR: cystic fibrosis transmembrane regulator; PCD: primary ciliary dyskinesia; NO: nitric oxide; ENaC: epithelial sodium channel; CF: cystic fibrosis; IVIG: intravenous immunoglobulins; DMARDs: disease modifying antirheumatic drugs; CS: corticosteroids; TNF: tumour necrosis factor; IBD: inflammatory bowel disease; GI: gastrointestinal; ICS: inhaled corticosteroids; Ig: immunoglobulin; IL: interleukin; CRS: chronic rhinosinusitis; CT: computed tomography; ABPA: allergic bronchopulmonary aspergillosis; GORD: gastro-oesophageal reflux disorder. #: may be induced by smoking.