People with rare diseases encounter common problems in their patient journey, such as delayed or inaccurate diagnosis, consulting multiple healthcare practitioners, difficulty finding experienced practitioners to treat the condition, poor information provision, minimal research on the condition, and lack of a person-centred approach. These issues affect clinical decision-making and access to appropriate health and social care (Garrino et al, 2015; Molster et al, 2016; NORD, 2019; Quintal et al, 2023; Rare Diseases International, 2024).
Subglottic stenosis (SGS) is a rare disease is described as a narrowing of the airway below the vocal cords (NORD, 2018). Anderson (2024) explains the four causes of this condition: congenital, autoimmune, trauma, and idiopathic. This article focuses on idiopathic subglottic stenosis (ISGS), a rare condition of unknown cause (National Cancer Institute, 2024).
Idiopathic subglottic stenosis affects mainly women of European descent between the ages of 30-50, with an incidence of approximately 1:400,000. Despite treatment, there is a high rate of recurrence (Carpenter et al, 2018; Aravena et al, 2020; Lu et al, 2023).
Pathophysiology
The aetiology of ISGS is unknown, yet there are several causation theories. Maldonado et al. (2013) postulate gastro-oesophageal reflux disease (GORD) is implicated in the development of the stenosis, as Blumin and Johnston (2011) detected pepsin (stomach enzyme) in the subglottic scar and/or larynges of people with ISGS. Fang et al. (2018) support this theory, identifying approximately 50% of their sample with evidence of GORD, predominantly in the upright position. However, Anderson (2024) and Aravena et al. (2020) recognise the limited evidence to support GORD as a contributory cause of ISGS; nonetheless, anti-reflux medication is advised (Razura et al, 2023).
Due to the prevalence of ISGS in women, it is suggested that oestrogen plays a role. Nanda et al. (2023) found that premenopausal women are more likely to re-stenose sooner than peri or post-menopausal women.
Genetic influences on ISGS are in their infancy. Dumoulin et al. (2013) assert their study was the first to detail a genetic predisposition for ISGS, investigating a familial link between siblings and a mother and daughter who all had ISGS.
ISGS is considered a fibrotic disorder with scar tissue and inflammation involving the subglottic region and the first two tracheal rings (Aravena et al, 2020). Figure 1 illustrates normal anatomy and subglottic stenosis.
Presentation
This condition affects mostly healthy people who present with decreasing respiratory capacity over a prolonged period (Berges et al, 2021). Symptoms are varied (table 1), but may include stridor, shortness of breath, wheeze, dry cough, decreased peak flow, mucociliary clearance difficulties, dysphonia, dysphagia, and fatigue (Nouraei & Sandhu, 2013; Gnagi et al, 2015; Gelbard, 2018; Anderson, 2024; Allgood et al, 2021; Berges et al, 2021; Razura et al, 2023). In severe cases, mucous viscosity can occlude the airway, becoming life-threatening (Anderson, 2024).
| Symptom | Description |
|---|---|
| Shortness of breath (dyspnea) | Difficulty breathing, especially during physical activity (Berges et al., 2021). |
| Hoarseness | A rough, raspy voice due to changes in the vocal cords or surrounding area (Gelbard et al., 2018). |
| Stridor | A high-pitched wheezing sound during inhalation or exhalation, indicating airway obstruction (Anderson, 2018). |
| Cough | A persistent, dry cough that may be exacerbated by the narrowed airway (Aravena et al., 2020). |
| Fatigue | General tiredness and lack of energy, often resulting from compromised breathing efficiency (Gnagi et al., 2015). |
| Dysphagia | Difficulty swallowing, which can occur due to the narrowing of the trachea (Anderson, 2018). |
| Mucociliary clearance issues | Difficulty clearing mucus from the throat, leading to thick, sticky mucus (Nouraei & Sandhu, 2013). |
Diagnosis
Diagnosing ISGS is challenging as it can be associated with other conditions (Berges et al, 2021; Damico Smith et al, 2023). Gnagi et al. (2015) found that ISGS took longer to diagnose compared to other types of stenosis, with an average time of 24.5 months from symptom onset to diagnosis (Berges et al, 2021). Damico Smith et al. (2023) referred to this as a ‘diagnostic odyssey,’ which can take nearly a decade in the US. Barriers to diagnosis include lack of primary care provider knowledge, dismissal of the expert patient, continuous inappropriate referrals, and patient barriers such as poor understanding of symptoms or not feeling unwell enough to seek medical advice (Berges et al, 2021; Damico Smith et al, 2023).
ISGS is a ‘disease of exclusion’ (Lu et al, 2023), requiring healthcare practitioners to exclude other possible aetiologies. This involves a detailed past medical history, physical examination, serology blood tests, and endoscopic and radiological investigations (Fang et al, 2018; Aravena et al, 2020; Pomerantz et al, 2021; Hintze et al, 2022). Table 2 below summarises the Myer-Cotton classification for subglottic stenosis.
| Classification | From | To |
|---|---|---|
| Grade I | No obstruction | 50% |
| Grade II | 51% | 70% |
| Grade III | 71% | 99% |
| Grade IV | No detectable lumen | |
Clinical management
Clinical management is difficult due to the similarity of ISGS to other common respiratory conditions. Patients typically present with a 50% obstructed airway when referred for diagnostics or first treatments (Blumin & Johnston, 2011). Endoscopic dilation (ED) is the most common intervention (Nouraei & Sandhu, 2013). Anderson (2024) explains the use of laser or balloon dilation, but these interventions have high recurrence rates (Hoffman et al, 2021), requiring shorter intervals between procedures (Shabani et al, 2017). Complications include re-stenosis, laser burn, orodental injury, infection, mucosal tear, sore throat, voice changes, and positional stiffness (Nouraei & Sandhu, 2013; Anderson, 2024; Newcastle upon Tyne Hospital, 2023).
Steroidal injection use has been recently introduced in the UK. Although this requires frequent hospital visits, it reduces the need for endoscopic or surgical interventions (Hoffman et al, 2020). Complications can include menstrual irregularities, neuropsychiatric effects, and other transient side effects (Celebi et al, 2021).
Surgical interventions include the Maddern procedure and cricotracheal resection (Anderson, 2024; Carpenter et al, 2018). These approaches have potential complications such as restenosis, damage to vocal cord nerves, bleeding, and infection. Gnagi et al. (2015) maintain that resection offers better symptom control and has the least recurrence rate, but Tierney et al. (2023) suggest endoscopic resection with adjuvant therapy as the procedure of choice due to better voice and quality of life outcomes.
Role of the nurse
The Importance of the nursing process
The nursing process is a systematic, patient-centred approach essential for delivering high-quality care. It involves critical thinking, clinical judgment, and evidence-based practice to address the unique needs of each patient. This structured method includes assessment, diagnosis, planning, implementation, and evaluation, ensuring comprehensive and continuous care. The Nursing and Midwifery Council (NMC) Code (2018) emphasises the significance of the nursing process in promoting patient safety, dignity, and well-being. By adhering to this code, nurses can effectively identify health issues, formulate care plans, and implement interventions tailored to individual patient needs, thus fostering optimal health outcomes and enhancing the patient experience.
Nursing assessment
Nursing assessment is the initial and critical step in the nursing process, involving the systematic collection and analysis of patient data to identify health needs and issues. It forms the foundation for developing personalised care plans and interventions. The assessment phase ensures that nurses have a thorough understanding of the patient's condition, enabling them to provide targeted and effective care. Table 3 above illustrates some of the key areas of nursing assessment for idiopathic subglottic stenosis.
| Assessment Area | Specific Observations and Actions |
|---|---|
| Respiratory Function | Assess respiratory rate, depth, and effort. Listen for stridor, wheezing, and other abnormal breath sounds (Berges et al., 2021). |
| Voice Quality | Monitor for changes in voice quality, such as hoarseness or loss of voice (Gelbard et al., 2018). |
| Peak Flow Measurement | Teach and assess the patient's ability to perform peak flow measurements to monitor airway obstruction levels (Carpenter et al., 2018). |
| Oxygen Saturation | Regularly check oxygen saturation levels to ensure adequate oxygenation (Pomerantz et al., 2021). |
| Symptom History | Record the onset, duration, and progression of symptoms such as dyspnoea, cough, and fatigue (Damico Smith et al., 2023). |
| Swallowing Ability | Evaluate for any difficulties in swallowing (dysphagia) that may indicate worsening stenosis (Anderson, 2018). |
| Psychological Well-being | Assess for signs of anxiety or depression, which may be related to chronic illness and breathing difficulties (Case et al., 2022). |
| Patient Education | Provide information about the condition, self-monitoring techniques, and the importance of follow-up care (Allgood et al., 2021). |
| Medication Adherence | Review prescribed medications, including any anti-reflux medications, and ensure the patient understands their usage (Razura et al., 2023). |
| Emergency Plan | Develop and review an emergency action plan with the patient for acute episodes of airway obstruction (Newcastle upon Tyne Hospitals, 2023). |
Nursing education and monitoring
It is essential to recognise that registered nurses play a critical role in educating patients with ISGS about their condition (Allgood et al, 2021). The UK Framework for Rare Diseases (2021) outlines priorities for healthcare professionals, highlighting the importance of education and resources to enhance the recognition and awareness of rare diseases and their treatments. However, Walkowiak and Domaradzki (2020) conclude that neither registered nor student nurses feel prepared to care for people with rare diseases due to a lack of knowledge and experience. Once diagnosed, disease surveillance and monitoring are necessary (Carpenter et al, 2018). Nurses should teach patients how to perform peak flow measurements, use nebulisers, and manage mucus (Tanner et al, 2019). Producing patient-friendly information can enhance health literacy and empower patients to manage their condition (De Santis et al, 2019).
Conclusion
Inaccessible healthcare is a reality for people with rare diseases due to prolonged diagnosis times and a lack of specialist practitioner knowledge. For people with ISGS, there is no known cure, but treatments aim to reduce symptom burden. Nurses play a crucial role in educating and supporting patients with rare diseases, empowering them to monitor their condition's progress.