Introduction

Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease.¹ This is a type of disease where the body attacks its healthy tissues.¹ The overlap of symptoms from other connective tissue diseases, such as rheumatoid arthritis and systemic lupus erythematosus (lupus), characterises MCTD¹. Therefore, there is a range of symptoms that patients may experience. Due to the rare nature of the disease, there are no definitive diagnostic criteria, although multiple attempts have been made.¹ The most common marker in diagnosis is the presence of anti-u1-ribonucleoprotein, as it is found in virtually all cases of MCTD.¹ 

MCTD is a chronic illness that has a significant impact on both quality of life and mental health. The disease ranges from mild to severe and is progressive. Living with a chronic condition can often be challenging, with many people experiencing feelings of loss, grief and deteriorating mental health. It is important to remember that these feelings are valid and to reach out for support, as it can be lonely.  

The purpose of this article is to explore how MCTD affects overall well-being and mental health to understand the impact on quality of life. This is important to both understand the holistic effects of the disease, as well as consider the types of support available.

Overview of MCTD 

MCTD refers to having features of two or more connective tissue diseases, particularly lupus, myositis and systemic sclerosis.

Common symptoms

Early symptoms of MCTD include malaise, myalgia and fever. These symptoms are not specific to MCTD, so it is difficult to diagnose in those early stages.¹ Symptoms develop over time and can be progressive.¹ Fatigue is a common symptom which can affect daily activities. The skin can also be affected, resulting in symptoms such as Raynaud phenomenon (fingers turning blue or white in response to cold or stress), malar rash (common in lupus) and swollen fingers.¹ Joint pain is also common, with inflammatory arthritis reported in between 60-80% of patients.¹

Overlap syndrome 

MCTD is commonly known as ‘overlap syndrome’ because many symptoms overlap with other connective tissue diseases. This means that MCTD can affect any organ or system of the body and can manifest in different ways. The overlapping nature of the condition means it is difficult to get diagnosed, especially early, as symptoms could suggest any more common condition.

MCTD is chronic and requires lifelong management. Treatments are dependent on the person and what types of symptoms they show. The disease itself is unpredictable, and like many chronic conditions, it has periods of flare-ups and remissions. Since the disease can affect any part of the body and is both progressive and chronic, this can have a detrimental impact on quality of life, lifestyle habits and mental wellbeing. Routines such as school, work and hobbies can be drastically affected. 

Impact on daily life

Challenges with physical functioning, energy levels, and mobility

MCTD can affect daily life and activities.² Although the severity of the disease varies, depending on the person, a common challenge is physical functioning. Fatigue, joint pain, and muscle weakness can all affect your ability to carry out daily tasks.¹ Even tasks such as moving around the house, cooking, cleaning or lifting objects can be exhausting and overwhelming.² This can limit independence and mean that people with MCTD may need extra support from those around them.

Interruption of daily routines

 Going to work or school and social activities can be difficult due to flare-ups and difficulty in managing symptoms.² This can have a detrimental impact on exams, performance and tasks carried out at work and a person's ability to feel independent and like they can manage. MCTD is unpredictable, and one day can be better than the other, but this unpredictability means there is no consistency.² Therefore, repeated absences can occur at work/school and affect future plans and prospects.

Ongoing medical treatment 

Medical treatment will be required for many symptoms, as they can often be debilitating and affect the entire body.¹ Therefore, someone with MCTD may need to have repeated appointments and checkups, appointments with specialists depending on their symptoms and severity, and would need to see a number of healthcare professionals.¹ This means that a person with MCTD may feel emotionally burdened by the disease; it is both complex and unpredictable. Moreover, being uncertain of what the future holds means that ongoing plans or future prospects may need to be put on hold. This affects both quality of life and mental health.

Mental health considerations

Emotional effects of chronic pain and uncertainty

Living with a chronic condition and the uncertainty of both disease progression and when the next flare-up may occur, as well as other concerns, can have emotional effects on an individual. Chronic pain and living with debilitating symptoms are not only a physical burden but an emotional burden, too. It can be distressing to handle daily activities while dealing with chronic pain and physical limitations

Anxiety and depression

The effects of living with MCTD can also cause struggles, such as anxiety and depression. A study conducted in people aged 8 years and above found that 34% of the cohort reported anxiety and depression symptoms.³ Depression manifesting as a result of MCTD is rare, but more commonly, mental health struggles tend to occur when dealing with a chronic condition. Anxiety can be a result of the uncertainty of the disease, the fact that it is rare and many of their peers, family and friends may not understand the disease and what it entails. Depression can stem from feelings of loneliness and isolation, due to physical limitations and the invisible emotions and physical burden of the disease. Living with a rare chronic condition can cause social withdrawal and a loss of normality. 

Coping and support strategies

There are a number of available support and coping strategies. Therapies such as cognitive behavioural therapy (CBT) have been utilised for anxiety, depression and other conditions.⁴ A study based on the use of CBT in reducing stress for patients with lupus found that levels of perceived stress were reduced, and that effects were maintained, even when the disease state did not change.⁵ CBT can therefore be used for other connective tissue disorders, especially MCTD, which has overlapping symptoms with lupus. CBT may be useful for treating symptoms of anxiety and depression, alongside medical treatments for physical symptoms.⁵

Other practices that focus on the mind-body connection, such as mindfulness-based stress reduction (MBSR) programmes, can help patients deal with the negative effects of the disease.⁷ In studies conducted on chronic conditions, including rheumatoid arthritis, it was found that MBSR can help patients cope better with symptoms and improve both mental well-being and quality of life.⁷

Self-management strategies such as stress management, sleep, diet and nutrition and physical activity have been found to show improvements for connective tissue diseases.⁶ Diets such as the Mediterranean diet, for rheumatoid arthritis, were found to be beneficial.⁶ Highly processed foods could impact the risk of lupus.⁶ Moreover, poor sleep, high stress, and smoking and alcohol were found to increase disease progression and impact quality of life. It is, therefore, important to consider MCTD holistically. Although it is unpredictable, it shares features with other connective tissue disorders, and these studies can highlight potential for more research on other coping strategies that support better mental health, overall wellbeing and quality of life. 

Summary 

MCTD, although a physical, chronic condition, affects not only the body but the mind. There is no cure for MCTD, nor much research as to how the disease manifests itself. Diagnosis criteria are limited, and there is no consensus on what this should entail. This can make people with MCTD feel lost and uncertain about what the future holds. Therefore, the disease burden must be considered by healthcare professionals and associated carers, and adequate support should be provided for mental well-being. 

Despite the many challenges that arise from MCTD, hope and resilience are important mindsets in dealing with the effects of MCTD. There is a wider community of individuals who have MCTD present in the UK and online, which can offer a sense of belonging to those who understand. Friends, families, online groups and support networks can all provide emotional support and help you realise you are not alone in dealing with the condition.

Moreover, research and medical treatment for autoimmune conditions like MCTD continue. There is more awareness of the holistic nature of the condition, and healthcare professionals can provide support with diagnosis and the transition of the disease.