Melorheostosis is a life-altering bone disease which can cause immense pain and challenges in daily functioning. While this is not a disease that leads to death, it can be quite debilitating. Careful attention should be paid to the quality of life and all measures taken to improve it.

Introduction

What is melorheostosis?

Melorheostosis is a rare condition in which bones grow thicker and wider than normal. Sometimes, this is linked to a change in a gene (MAP2K1). In about half of the diagnosed cases, there is no specific identifiable cause. This condition is not inherited, so a parent with melorheostosis will not necessarily have a child with the condition.

Quality of life

Simply put, quality of life looks at how healthy and able a person is to participate in the normal daily activities associated with their age and lifestyle. Can the individual perform the usual functions and tasks in their daily lives such as bathing, feeding, moving around freely, working, staying fit, etc? Not only is quality of life important to look at from a physical perspective, but the effect on mental health cannot be ignored. In terms of a chronic medical condition, ensuring the person has a satisfactory quality of life according to their expectations is important. Medical professionals must work with the patient and family to meet the desired level of functioning. 

Understanding melorheostosis

Melorheostosis

As mentioned previously, melorheostosis, or Leri’s Disease,¹ is a condition where bones become thicker and wider than normal due to increased growth of the bone tissue (cortex). Simply put, new bone tissue is growing on top of existing bone. The term melorheostosis means “dripping” or “flowing” bone formation in a limb. As this implies, the bone changes seen in this disease usually, but not always, occur in the limbs (arms and legs) and are usually one-sided. 

Causes

As already described, about half of all cases of melorheostosis are caused by a mutation in the MAP2K1 gene. This gene codes for a protein called MEK1 protein kinase which is partly responsible for the development and multiplication of cells, including bone cells. When this gene is mutated, it leads to abnormal bone growth. 

Symptoms

The symptoms of melorheostosis are directly related to the effect on the bone. The main symptoms are:

• Chronic Pain
• Increased tiredness²
• Bone deformity
• Shortened muscles (contractures)
• Stiff muscles and joints
• Decreased range of motion
• Swollen, tight, and discoloured skin

Prevalence

Melorheostosis is a rare disease and is estimated to occur in one of every one million people. Currently, it is thought that there have been 400 reported cases in the world.

Impact on bones and surrounding tissues

The impact on the bones and surrounding tissues varies depending on the severity. In cases where only one limb is affected, that limb will likely be deformed and contractures will be present. This means that the muscles, tendons, ligaments, and connective tissues will be tight, short, and stiff, leading to pain and decreased mobility. 

Quality of life

What is quality of life?

Quality of life is a metric to evaluate the well-being of an individual at a specific time point.⁴ In the case of melorheostosis, quality of life is evaluated at diagnosis and throughout the disease course. 

There are several criteria which factor into quality of life. These include:

• Overall health
  • Physical
  • Mental
  • Spiritual
• Interpersonal relationships
• Educational status
• Occupational environment
• Socioeconomic status
• Financial status
• Sense of safety/security
• Freedom
• Decision-making capacity
• Belonging

According to the World Health Organization, quality of life is defined as an individual’s personal subjective evaluation of their daily life when compared to their goals.⁴ Based on this definition, it is easy to see that quality of life needs to be determined and defined by the individual and not assigned by an outside party.

Assessment methods

The standard method to assess quality of life is with questionnaires. There are several which are generally used and these include the SF-36 and the EQ-5D.⁵ These both measure an individual’s perception of their overall health if they have any limitations completing varying tasks and if any physical or emotional problems have caused them to withdraw or isolate themselves from family or friends. Specifically, the EQ-5D looks at five distinct aspects (or dimensions) of daily life. These include pain, emotional turmoil (depression and anxiety), mobility, self-care, and the ability to complete routine activities.⁵  Both tools can be used to establish an individual’s quality of life through their active participation.

Importance of assessment by the patient

As mentioned earlier, the quality of life can only be adequately determined by the individual being assessed. While they may appear to have a deficit in a specific metric, such as mobility, or the ability to complete a certain task, that perceived deficit may not be a deficit in their mind based on their background, culture, and lifestyle.

Quality of life metrics

Physical factors

The pain and decreased mobility, which are hallmarks of melorheostosis, have a very well-defined effect on the quality of life. Both of these symptoms can make completing daily tasks challenging. While the treatments for this disease are directed at decreasing pain and restoring function, there is no cure. Therefore, one must learn to live with the symptoms and manage them as best as they can. They can do this with pain medications, and physical occupational therapy. There are also some surgical options to lengthen the limb or decrease the shortening in the muscles or tendons.

Pain levels and management

Pain is typically associated with activity, so rest periods may help to reduce pain. While chronic, pain is usually not as severe as it can be. There are several different options for pain management and the options should be thoroughly discussed and decided upon by the patient and their physician.

Mobility issues

Mobility becomes a challenge due to the stress on the muscles and surrounding tissues, not necessarily the thickened bone itself. Since the muscle may become shortened and both the muscles and joints may become stiff, it can be quite challenging to walk (in the case of a leg presentation) or to move the limb normally otherwise. This can impede the completion of daily tasks or lengthen the completion of those tasks.

Emotional distress (anxiety and depression)

Even before a diagnosis of melorheostosis is confirmed, the individual will likely exhibit symptoms of depression and anxiety because of the physical symptoms. Physical pain and discomfort can worsen emotional distress. However, the opposite is also true.⁶ In the case of melorheostosis, the pain and loss of ability to move easily and complete daily tasks as quickly and seamlessly as before can cause anxiety and depression. 

More so, once someone has begun to feel symptoms of emotional distress, they will likely perceive physical discomfort more acutely than before. Emotional distress can also affect how an individual interacts with others, including their treatment team, and responds to treatment.⁶ Increased emotional and physical distress in addition to the cost of treatment can lead to financial hardship, which further continues the cycle.⁶

Impact on daily activities

As suggested above, the completion of activities may take longer and adjustments may need to be made to accommodate for the decreased mobility and pain. An individual may even give up activities that they previously enjoyed because the energy expenditure is more than they can handle in their condition.

Case study

In a paper written by Vo and the team, they presented a case of an 82-year-old assigned male at birth (AMAB) who displayed a swollen right upper arm.³ The patient said their arm had been slightly swollen for twenty years but had gotten noticeably worse in the last two weeks. The patient was also having chronic low-grade (3/10) pain and numbness which were not improved or worsened with any activities. The arm was tender and the skin was taut; there was decreased mobility in the elbow; and the patient’s wrist and hand were more than doubled in size.

Since the patient’s main concerns were pain and decreased mobility, they were treated with oral pain medications and were instructed to elevate the arm to help reduce the swelling. The patient was also given medication to help with their ageing bones. Since the patient’s quality of life was only minorly affected, surgery was not indicated. The authors did suggest that surgery could be an option in the future should the patient’s symptoms worsen and their quality of life decline.³

Improving quality of life

Based on the information provided above, it is clear that quality of life is of the greatest concern in melorheostosis. Living in chronic pain and being unable to complete daily activities in the same way or as easily as before can lead to both physical and emotional despair. As the physical symptoms increase or the emotional state worsens, this cycle perpetuates and the overall quality of life continues to decline. Therefore, quality of life must be a focus of the management and treatment of this disorder. 

There are numerous ways to improve quality of life and these include: 

• Taking pain medications appropriately and as needed to obtain pain relief
• Receiving physical therapy to increase mobility and range of motion
• Participating in occupational therapy to learn how to modify daily tasks
• Seeking psychological care to improve the mental state
• In more extreme cases, surgery may be helpful to remove excess bone or to reshape the bone

Summary

The condition known as melorheostosis is both debilitating and progressive. While it does not cause death, it has serious implications for the quality of life experienced by the affected individual. It is critical that when caring for someone with this diagnosis, not only should physical needs be addressed but emotional needs as well. Above all, measures should be implemented to improve quality of life as much as possible.