So What’s Klippel-Feil Syndrome?

Initially described in 1912, Klippel-Feil Syndrome (KFS) occurs when there is an abnormal fusion of two or more cervical vertebrae. Maurice Klippel and Andre Feil found that when a child presents with a short neck, limited neck mobility, and a low posterior hairline, they are most likely to have  KFS.^1,2 

This syndrome occurs during the three-to-eight-week period when the embryo is developing.³ With no true aetiology, it is difficult to know the specific cause of KFS.⁴ What we do know is that this abnormal fusion happens when proper segmentation fails, resulting in those three symptoms mentioned prior.²

This article will work to explore how people live with KFS while highlighting coping strategies that they use to make their lives easier and improve their quality of life.

Common Symptoms and Challenges

This syndrome is historically very rare, affecting about 60-70%  of paediatric patients assigned female at birth. Global studies have demonstrated a 2% incidence rate with a cohort of 458 patients. ⁵Sometimes a person can live their whole life not knowing if they have KFS, due to its asymptomatic characteristic.⁶

However, when an infant presents with symptoms, they may include: A short neck with limited mobility, A low hairline skeletal issues may include:

• A curved spine (scoliosis)
• A lack of ribs
• Spina bifida occulta (spinal column is not completely closed
• Sprengel’s deformity
• Cleft palate
• Hearing impairments  Heart and kidney malformations Chronic pain in the back, head, or neck

 If there is compression in the nerves, some issues may develop.

Medical and Physical Coping Strategies

To live a full life when experiencing KFS, one needs to adapt medical and physical coping strategies in their daily routine. These strategies will aid in managing symptoms and any other related conditions or complications that come with KFS. Nonoperative management is the most common way KFS can be managed. When complications include acute neurological deficits, chronic neurological issues, or cervical instability, KFS is managed in other ways. 

Medical Interventions

• Pain management

Pain management for patients with KFS can look like a lot of things. All methods are essential in coping with this syndrome because of the issues posed by limited movement in the neck and back. The nature of the condition increases the patient’s susceptibility to chronic headaches and muscle pains.

Over-the-counter pain medication is an appropriate intervention to help patients with KFS. Research shows that they are just as effective as oral prescribed medication and pain reduction surgery.⁷ These medications can range from nonsteroidal anti-inflammatory drugs like naproxen and ibuprofen to topical analgesics such as topical creams and cold packs.

The selection of methods of treatment corresponds to the level and localisation of pain a patient is experiencing.

• Surgery (in severe cases)

Research shows that pain management through surgery is not as effective as assumed. Although it is an alternative that can be pursued by KFS patients. It is said to be the best intervention to manage neurological symptoms that cause pain, inadvertently aiding with pain.⁷

These symptoms are severe radiculopathy that can cause pain, numbness, tingling or weakness or myelopathy that causes weakness, numbness, or problems in fine motor skills.⁸ Surgery can also be used to address other comorbidities in tandem with KFS, such as a cleft palate.

• Regular monitoring for complications

KFS patient monitoring is important to ensure that the patient is properly cared for. This is because of the complications that come with KFS; with active monitoring, nerve damage can be noticed and treated. KFS comes with effects on the lung, heart, and kidneys; monitoring can aid in detecting and managing these complications.

Additionally, regular monitoring aids in improving and maintaining a good quality of life for the patient.  

Physical Therapy and Exercise

Physiotherapy for KFS patients can aid in several ways, these include:⁹

• Pain and stiffness
• Mobility and increasing strength
• Correcting posture
• Psychosocial stress
• Increase or better respiratory functions

Devices such as braces for the neck and back can also be used to support the patient and reduce stress on the muscles and pain.⁹ Introduction or employing ergonomic tools such as good lumbar support in chairs and adjustable desks for work and daily living, are some tools that can also increase the quality of life of a person with KFS.

Moreover, the creation and implementation of a physiotherapy intervention protocol have been found to have significant positive effects on pain and mobility. In turn, improving patient outcomes and reducing any social stigma for people experiencing KFS within communities.¹⁰

Emotional and Social Coping Strategies

Mental Health Support

Implementation of therapy or counselling services to patients with KFS is important due to the social issues and stigma that accompany this syndrome. Being able to speak about the issues that come hand in hand with this syndrome, such as the chronic pain and being given behavioural cognitive tools to deal with them can significantly improve their quality of life.

Support groups can also be a great way to provide community among people living with KFS. Support groups provide a safe space for people experiencing KFS to explore the issues that come hand in hand with this syndrome and share solutions and coping strategies.

Building a Support System

Having an active support system is essential when living with KFS. This structure can be a great way for people living with KFS can access consistent support without judgment. This can contribute to the quality of life of a KFS patient, as your family can not only aid with your daily tasks but can also provide you with emotional support and a sense of belonging. They can also provide you with empowerment and give you a voice, especially in situations where you cannot fight for yourself.

Improving Quality of Life

• Daily Lifestyle Adjustments

People living with KFS need to ensure they avoid straining their muscles in their daily lives. This can considerably reduce pain and overall stress in their bodies. In turn, substantially increases their quality of life.

The act or process of tailoring activities to the person living with KFS is subjective. This generally means that activities are created based on the physical and psychological needs of the patient. This can include avoiding contact sports such as football or basketball, to avoiding any activities that can lead to the person falling or any impacts. Nonetheless, this is not the case for everyone living with KFS. Always contact your doctor or healthcare professional to ensure you are doing what is right for your body.

People living with KFS should also put focus and prioritise having enough sleep, eating nutritious meals, and ensuring their posture is at its best. This will holistically contribute to their overall well-being and quality of life.

• Work and Education

When the focus is to create accessibility in all things for people living with KFS, one needs to consider their specific conditions. Others may need assistive devices like modified transportation or adaptive clothing and footwear.

Despite this customisation needing to be subjective, institutions can try their best to look for common needs for people living with KFS and implement them into their environments. Not only the spaces these people live their daily lives in, but also the people they live around. One should be able to be open and honest about their need and receive nothing but understanding. This can be cultivated by creating awareness through education and empowering people living with KFS to speak their truth.

Summary

People living with KFS go through a lot daily, which is why it is important to have coping strategies that can help them deal with the chronic pain and all limitations that come with this syndrome. Adapting these coping strategies is not only significant in reducing pain but also in increasing their quality of life.

Having KFS is not an end-all; a person can live a fulfilling and happy life with this syndrome. With the right kind of support and care, one can thrive in their life. This is why it is important to ensure that the coping strategies adopted in the lives of people living with KFS are subjective, created solely to fit their physical and psychological needs.

As healthcare providers or people living with KFS, you need to be a pioneer in empowerment and knowledge of this syndrome. This is the most significant way to promote understanding of this syndrome across various multitudes, hence reducing their need to cope with the social issues and focusing their attention on strengthening themselves.