Optimizing the Journey for Patients With Nontuberculous Mycobacterial (NTM) Lung Disease in the United Kingdom

Abstract

Nontuberculous mycobacterial lung disease (NTM-LD) is a chronic infection with increasing global incidence, which primarily affects individuals with preexisting lung conditions such as bronchiectasis and chronic obstructive pulmonary disease. Despite the availability of clinical guidelines and newly published Standards of Care, variability in healthcare professionals’ (HCPs) familiarity with NTM-LD results in delayed diagnoses, inconsistent care, and suboptimal patient outcomes. Based on our own experiences as NTM-LD patients, we highlight key issues in the management of NTM-LD, including diagnostic inefficiencies, variable access to specialized care, mixed experience of empathy, and insufficient information provision. We provide recommendations that we hope will optimize the patient journey and improve outcomes for individuals with NTM-LD. These include improving HCP education, ensuring the involvement of a multidisciplinary team from the point of diagnosis, enhancing patient participation in decision-making, and promoting access to support networks. The challenges and solutions we propose are globally relevant and highlight the need for clear communication and integrated care pathways. A collaborative, patient-centered approach is crucial to effectively managing this complex disease in both primary and secondary care settings.

Plain language summary

Addressing the challenges of living with nontuberculous mycobacterial (NTM) lung disease: ways to improve diagnosis, treatment, and support.

Nontuberculous mycobacterial lung disease (NTM-LD) is a serious, long-term lung infection that is becoming more common worldwide. The symptoms of NTM-LD, such as persistent coughing, unintentional weight loss, and extreme tiredness, can cause significant disruption to a person's quality of life.

Unfortunately, many general practitioners and hospital medical staff are not familiar with NTM-LD, and this can lead to delays in diagnosis and treatment, which can worsen patients’ symptoms and overall health. Some patients may also struggle to access specialist NTM-LD care or find that their healthcare teams do not fully understand the impact of the disease on everyday life. There is also a lack of clear information given to patients about their condition and treatment options, which makes it harder for them to manage their health.

In this article, we share our experiences as patients living with NTM-LD and suggest ways that care can be improved. Key recommendations include better education for healthcare teams to help them to recognize NTM-LD early, ensuring that patients have the support of a diverse team of healthcare professionals as soon as they are diagnosed with NTM-LD, and involving patients more in decisions about their treatment and care. We also think it is important that patients are informed about support groups that can help them cope emotionally and manage their condition.

By addressing these issues, we aim to improve diagnosis, treatment, and support for NTM-LD patients and ensure they receive the care they need.

Introduction to the Issue

Nontuberculous mycobacterial (NTM) lung disease (NTM-LD) is a chronic infection caused by a diverse group of Mycobacteria species, distinct from the bacteria that cause tuberculosis (TB). Although NTM-LD is considered rare, its incidence is increasing worldwide. ¹ While there are limited data on the number of people in the United Kingdom living with NTM-LD, a study looking at NTM culture positive pulmonary isolates in England, Wales, and Northern Ireland showed an increase in incidence from 4.0/100 000 in 2007 to 6.1/100 000 in 2012. ² The disease often presents with debilitating symptoms, such as chronic cough, fatigue, and weight loss, which can severely impact patients’ quality of life. ³ NTM-LD primarily affects individuals with preexisting lung conditions such as bronchiectasis and chronic obstructive pulmonary disease, making these populations particularly vulnerable. ⁴

Despite the existence of clinical guidelines^5,6 and new Standards of Care published by NTM Network UK, ⁷ many healthcare professionals (HCPs) remain unfamiliar with NTM-LD and its management. This contributes to significant variability in the care pathway, resulting in inconsistent patient experiences and outcomes. ⁸

In this article, we explore our experiences of the NTM-LD journey as a group of 10 patients. By highlighting key issues, we aim to provide actionable recommendations to optimize the patient journey, ultimately improving clinical outcomes. This discussion is relevant for both primary and secondary care providers, who play a crucial role in the early identification, referral, and management of this complex disease. Although most of our experiences have been within the UK health system, we believe that the challenges we faced and our subsequent recommendations are relevant globally.

Practical Perspectives

Inefficiencies in NTM-LD Diagnosis

The diagnosis of NTM-LD is fraught with inefficiencies, largely due to limited HCP awareness of the condition. It is commonly misdiagnosed as other conditions, such as lung cancer, TB, or asthma. This leads to uncertainty and anxiety for patients, who may undergo unnecessary tests or treatments that fail to address the root cause of their symptoms. One of our authors shared their experience of an incorrect diagnosis of lung cancer, which had a significant and lasting impact on them:

I had an appointment to see the consultant for the results of my PET [positron emission tomography] scan. When I got there, I actually saw a Macmillan nurse who gave me her card which said she was the lung cancer nurse. I was shocked and felt that my medical help was finished. There was no arrangement for me to see anyone else to ask any questions. Just go home and get on with it. When I had processed it all I had to tell my children and the rest of my family that I had cancer. It was dreadful. I was later told I needed a biopsy, weeks later I was told that I didn’t have cancer, it was NTM. I still don't think I should have gone through that nightmare.

The similarity in clinical presentation between NTM-LD and other lung infections can result in repeated courses of unnecessary antibiotics being prescribed over many years, further delaying appropriate care.

Many of us waited years for a definitive diagnosis of NTM-LD. This delay was both frustrating and exhausting, with frequent return visits to clinics for repeated evaluations with little progress. Several of us had to give up work while waiting for a diagnosis, due to the severe impact of the symptoms of NTM-LD, particularly fatigue and coughing, on our ability to do our jobs. This has had a significantly detrimental effect on our financial situation, as experienced by one of our authors:

While waiting for my diagnosis of NTM-LD, I resigned as a nurse, thinking I would soon get better. I didn’t take sick leave, so I lost my national insurance contributions. I haven’t been able to claim Employment and Support Allowance and, as a result, my pension has depleted. It has crippled us financially.

The extended timeframe to diagnosis risks lung deterioration, ⁹ which can be exacerbated by delays in accessing therapies like physiotherapy for airway clearance, which are crucial for managing the disease effectively.

NTM-LD can coexist with other infections, such as Haemophilus influenzae and Pseudomonas aeruginosa, which are often easier to diagnose and treat. Some HCPs focus on these infections while overlooking the presence of NTM, further complicating and prolonging the diagnostic process.

Mixed Experience of HCP Empathy

Many of us feel burdensome to our HCPs, particularly as they have overwhelmed schedules and limited time for appointments. We understand that HCPs are doing their best in an overstretched healthcare system; however, some of our authors report feeling that their HCPs “did not seem to fully understand how much the symptoms of my NTM-LD were affecting me on a daily basis - coughing to the extent of choking and fearful for my next breath at times.” This perception can lead to a reluctance to seek necessary care, further compromising patient outcomes.

Some of us have struggled with a decrease in support, from both our HCPs, and friends and family, once our diagnosis was “downgraded” from an initial diagnosis of a condition such as lung cancer to NTM-LD. Although NTM-LD may not carry the same immediate life-threatening connotations as cancer, its symptoms, such as severe fatigue, weight loss, constant coughing, and breathlessness, are debilitating. These symptoms, along with side effects from medication, mean that it can be difficult to keep up everyday activities, and have forced some of us to stop working.

Difficulties in Accessing Specialized Care

Access to specialized care for NTM-LD is highly variable and poses significant challenges for patients. There is considerable disparity in the availability of allied health services, such as physiotherapy, across different regions. Airway clearance training, provided by physiotherapists, can be vital in the daily management of NTM-LD and its symptoms. Some of us were unaware that these services were available, further limiting access to comprehensive care.

Those of us living in rural or underserved areas find it difficult to see NTM specialists due to travel distances while suffering from debilitating symptoms. This lack of access to expert care can delay diagnosis and treatment, exacerbating the disease's impact on patients’ lives.

Obtaining medication for NTM treatment can be complex, as these drugs are typically dispensed by hospital pharmacies rather than local pharmacies. This poses a logistical challenge for patients who live far from hospitals or have mobility issues, increasing the risk of running out of medication and missing doses due to inefficiencies in the process.

The emotional toll of living with a chronic condition such as NTM-LD is often underestimated. We have all experienced feelings of isolation, despondency, and grief, yet psychological support is rarely integrated into care plans. The absence of mental health resources leaves patients struggling to cope with the emotional challenges of managing a chronic, progressive condition. One of our authors shared the following experience:

“My NTM-LD diagnosis had, and still has, a big effect on my mental health. It has decimated my retirement travel plans with my husband. There is no escaping either from the daily grind of physiotherapy, nebulising, taking pills etc.”

Lack of Information Provision at all Stages of the Patient Journey

We have found ourselves navigating our healthcare journeys with insufficient information. There is a lack of clear, accessible information about NTM-LD, including what to expect at diagnosis and potential treatment strategies. Very few of us were provided with easy-to-understand short- and long-term care plans, including when to seek help with side effects of NTM medications. This gap leaves patients feeling uncertain about their condition and unsure of how best to advocate for their care. One of our authors felt that the lack of information, particularly at diagnosis, was a big issue for them.

The main thing was knowing how to cope with side effects of medication (simple things like taking them in the evening rather than the morning, to help with the nausea) and knowing that I should have been doing chest physiotherapy.

Recommendations

The newly launched Standards of Care for NTM-LD ⁷ outline the minimum level of care that patients should expect to receive from their health service. These Standards lay out 33 quality statements with accompanying measurable and auditable outcomes in 6 sections, which cover the presentation, diagnosis, treatment, further management, and research of NTM-LD. They are a valuable and practical resource designed to help HCPs deliver high-quality, equitable care and support patients to understand what should be expected as part of their NTM-related health, well-being, support, and care. Ultimately, we hope that they will improve the care pathway experience for people with NTM-LD in the United Kingdom by supporting a more rapid diagnostic process than currently exists, and simplifying the patient journey, along with associated cost and resource savings. As patients, we are delighted that the Standards place the patient experience front and central, encouraging and guiding us to advocate for our own health. However, while they offer essential advice, we propose the following additional recommendations based on our experiences, with the aim of further improving and optimizing the patient journey and overall care experience.

Improve Education and Awareness of NTM-LD Among HCPs

As shown in Figure 1, which illustrates the ideal patient pathway as we see it, we encourage both primary and secondary care HCPs to consider NTM-LD as a differential diagnosis when investigating a patient with respiratory symptoms. A prompt referral to a respiratory specialist could significantly improve the accuracy and timeliness of diagnoses and reduce delays and misdiagnoses. Early identification is critical to optimizing the patient journey and ensuring appropriate care.

Figure 1.

The “ideal” NTM-LD patient pathway.

We feel that it is crucial for HCPs to recognize that NTM-LD is a systemic condition, which causes a range of debilitating symptoms that make daily life a challenge. To address the issue of time pressures on consultations, we urge the respiratory service leads to start conversations with their hospitals to ensure they have the resources they need. For example, we recommend that allied health professionals, such as nurses, become more involved in the management and care of patients with NTM-LD, which we hope would relieve some of this pressure.

We urge HCPs who see patients with respiratory symptoms to review the Standards of Care for NTM-LD ⁷ as well as seeking out information on NTM-LD at relevant conferences, such as the British Thoracic Society annual meeting. We ask HCPs to engage with patient organizations, which are a valuable source of information on the condition and also to keep up-to-date with the medical literature in this area. We recommend incorporating NTM-LD into training curricula for all relevant healthcare disciplines, including general practitioners (GPs). This will ensure that future HCPs have a baseline understanding of NTM and can better manage patients with the condition.

Ensure Access to Multidisciplinary Care Is Available From Diagnosis

Access to professionals from a multidisciplinary team (MDT) from the point of diagnosis can help manage symptoms like breathlessness and weight loss, and provide support with complex medication regimens, including managing side effects. As shown in Figure 1, we believe that an immediate management requirement following a diagnosis of NTM-LD is for HCPs to refer patients to appropriate allied health professional support.

We ask HCPs to make their patients aware that they can access MDT support, such as physiotherapy, dietetics, and pharmacy, as this enables patients to take control of key aspects of their disease management, reducing stress and improving the overall experience.

We believe that a more integrated approach between primary and secondary care is essential for optimizing the patient journey. For example, clarity is needed on who is responsible for ongoing monitoring, such as regular sputum sampling, and an awareness that the patient is taking NTM medications, particularly in relation to potential interactions with other drugs prescribed by their GP.

Increase Patient Involvement in Decision-Making and Ensure Adequate Information Provision

HCPs should strive to involve patients and their families or carers in decisions regarding the management of their NTM-LD. Patients should have access to clear, comprehensive information about their condition and treatment options. This will enable them to make informed decisions about their care and foster a more collaborative patient-HCP relationship. As shown in Figure 1, we consider this to be a key part of ongoing management within the ideal NTM-LD patient pathway.

We recommend that HCPs develop and provide their patients with personalized, easy-to-understand care plans to help them better manage their condition. These plans should include detailed information on managing side effects of medication, ways to efficiently access necessary medications, and strategies for handling changes in symptoms. Plans need to be tailored to the individual's needs, abilities, and wishes.

Ensure Access to Support Networks

Support networks play a crucial role in helping patients cope with the emotional and psychological burden of NTM-LD. We ask HCPs to ensure that they inform patients upon diagnosis about available peer support groups, such as NTM Patient Care UK, ¹⁰ which offers valuable resources, including regular Zoom meetings. For us, NTM Patient Care UK has been a “lifeline,” helping us navigate the challenges of living with NTM. Where it is required, we also recommend that NTM patients be referred for psychological support.

Conclusion

Optimizing the patient journey for individuals with NTM-LD requires a collaborative approach between HCPs and patients. The Standards of Care for NTM-LD are a great starting point, but we hope that our recommendations around enhancing education for HCPs, improving access to multidisciplinary care, and actively involving patients in decision-making will create a more patient-centered care pathway. Figure 1 illustrates the ideal patient pathway as we see it, emphasizing the need for NTM-LD to be considered early in the diagnostic process, along with prompt referrals, clear communication, integrated care, and shared decision-making. Together, these efforts will help to improve patient experience and outcomes globally, ensuring that individuals with NTM-LD receive the comprehensive care and support they deserve.