Rare autoinflammatory conditions
Michaël Hofer, MD, a paediatric immunologist and rheumatologist based at CHUV, the University of Lausanne, Switzerland, explains the challenges faced by children and families living with rare autoimmune diseases, with a specific focus on the transition of care from childhood to adulthood
Dr. Höfer is a pediatric immunologist and rheumatologist based at CHUV, the University of Lausanne, Switzerland. With his team, he runs a multisite clinic covering the French part of Switzerland. He is an expert in rheumatic diseases affecting children and teenagers, including autoinflammatory syndromes. Dr. Hofer is a senior member of several academic organisations, has conducted numerous research studies and trains medical students and junior doctors in his specialty.
Introduction
For over 20 years I have been providing medical care for children and teens with childhood forms of arthritis, like Systemic Juvenile Idiopathic Arthritis (SJIA) and other rare autoinflammatory conditions. These include periodic fever syndromes such as Cryopyrin-Associated Periodic Syndromes (CAPS), TNF (Tumor Necrosis Factor) Receptor Associated Periodic Fever Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), also known as Mevalonate Kinase Deficiency (MKD) and FMF (Familial Mediterranean Fever). My experience has shown me how hugely variable these diseases can be (both in terms of severity and longer-term outlook), how difficult it can be for children and their parents to cope with the distressing and unpredictable symptoms, and how isolated people can feel because the disease they are living with is so rare. Children with these conditions may not look obviously unwell but they miss school a lot due to flare-ups of their symptoms and medical appointments; they may fall behind and feel excluded – and they may even try to hide or deny their condition in an effort to keep up with everyone else in terms of schoolwork, sports and hobbies. You can visit the lifestyle pages for tips on managing daily life with rare autoinflammatory conditions
How has the situation changed over the last two decades?
The good news is that doctors are so much better equipped to help people living with these diseases than we were 20 years ago. Primary care doctors are more aware of the conditions than they used to be so they are sending patients to see specialist hospital doctors like myself earlier on. We are also better at diagnosis, we have more advanced techniques at our disposal – included genetic testing – and we have better treatments. As an illustration of how things have changed, a recent publication in an academic journal tells the story of two sisters.1 The older sister was first seen by doctors 10-15 years ago after developing symptoms, but sadly died from her condition before being diagnosed. When her younger sister developed very similar symptoms several years later, she had the opportunity to undergo modern genetic testing. This confirmed the diagnosis (a rare condition known as DADA2) and enabled the most appropriate treatment to be started.
What challenges remain?
Symptoms are very variable
One of the main challenges we continue to face is that the symptoms caused by these conditions vary greatly: there is no ‘typical’ patient. There are symptoms – and patterns of symptoms – we tend to see most often, but we also frequently come across patients who don’t fit the usual picture. For conditions that are already rare, this great variability can make reaching a diagnosis very challenging. We are currently working to develop a more accurate symptom checklist but this is not an easy task. Visit the daily impacts page for more information on the symptoms of periodic fevers.
Genetic tests don’t always give clear answers
And it’s not only the symptoms that vary. When we conduct genetic tests we quite often see results that don’t fit any of the usual boxes in our diagnostic checklist. Genetic testing has become much more advanced and this can help a lot with diagnosis. But in some cases, it has meant we have a lot more information to consider and analyse than we did previously, which makes the whole process more complicated and raises new questions. Sometimes, the ultimate answer we are looking for doesn’t emerge clearly.
It can still take a long time to get a diagnosis
Making a diagnosis as quickly as possible is very important. Some people’s diagnostic ‘journeys’ are still prolonged and frustrating; they see lots of different doctors, may be wrongly diagnosed several times, and can become very discouraged. In the meantime their condition may get worse. Not long ago I made a diagnosis of CAPS in a man in his mid-50s: in this case it had taken over 50 years from his first symptom to his diagnosis! The longer it takes for a person to be diagnosed, the longer it will take for them to receive the most appropriate treatment. Once a diagnosis is confirmed it is not the end of the journey, but rather the beginning of a new chapter. It can be alarming to know that you or your child have been diagnosed with an incurable disease and scary to think of what may lie ahead – but the positive thing is that a diagnosis immediately opens new doors to treatment, care and support.
Particularly with children, we sometimes need to consider how far to go with trying to pinpoint exactly what the condition is, as the individual periodic fever syndromes can closely mimic each other. There is a childhood condition called PFAPA (Periodic Fever with Aphthous stomatitis, Pharyngitis and Adenitis) which is somewhat more common than periodic fever syndromes but presents with similar symptoms. However, children tend to grow out of PFAFA – which is usually not the case with a periodic fever syndrome. If the process of eliminating different possible diagnoses is particularly long and challenging, that fact alone can sometimes help to confirm the diagnosis.
What support do patients and parents need?
Understanding what the diagnosis means
Following a diagnosis, everything changes. Parents need to come to terms with the fact that their child has a disease that won’t go away. They then need to change their view of what ‘healthy’ means for their child – and surround themselves with sources of help and support to keep their child as close as possible to the healthiest he or she can be. In collaboration of the team at CHUV (the University Hospital of Lausanne, Switzerland), where I work, the Arthritis Foundation of Geneva runs a helpline staffed by nurses. We also hold a yearly meeting for parents and patients where they can ask us questions and meet other families face to face. They often find it very useful to talk to others who have faced similar challenges – or whose child may have tried treatments that they themselves are contemplating. A frequent topic is how much to tell other people – such as teachers – about a child’s illness. It may be important for such people to be aware of the child’s condition but it can be equally important that the child is not then singled out for special attention or made to feel ‘different’.
Learning how best to share concerns with healthcare professionals
In collaboration with the Arthritis Foundation of Geneva, our team also holds an annual patients’ forum which is an opportunity for healthcare professionals to have open, honest and detailed dialogues with patients and parents to better understand their concerns, preoccupations, worries and priorities – and how communication and collaboration between us can be improved. This is often an emotional experience for everyone involved. The following websites provide further information:
Handling the transition from childhood to adulthood
One of the most challenging periods for our patients is the transition from childhood to adulthood. Older teenagers who may have missed out on some of their studies often find that the educational system will not make allowances for the fact that they have a chronic illness. They may also have experienced social problems. So, for young people who may already be finding this time difficult or sensitive, the medical care and support they receive is critical. Adult medical care places a much greater responsibility on the patient to manage their own care – so the transition should not take place abruptly. The transition program at CHUV encourages frequent interaction with the new physician before the change takes place. At the same time the current physician should still be available whenever they might need to be consulted. Our transition program has been running for 7-8 years and is still evolving as we gain more experience. We are also studying transition programs taking place elsewhere to see if we can learn from them.
What about adults with these diseases?
My experience is mainly with children but as I’ve said, these diseases continue into adulthood. And some of them – such as Adult-Onset Still’s Disease (AOSD) – don’t actually develop until adulthood. For adults, their illness can threaten job security: employers are often not very understanding when someone needs to take time off on a frequent basis. Feeling insecure at work can undermine confidence and self-esteem, leading to a range of other psychological and social problems. For these reasons, having access to the best care and support available remains extremely important. You can read more about AOSD in the Science page.
Conclusion
Rare autoinflammatory conditions – including periodic fever syndromes – are complex, challenging conditions that can make life seem like a constant struggle. But we are getting better all the time at recognising and diagnosing these conditions, and learning more about how best to treat them. At CHUV we are even offering a special course for 4th year medical students – the doctors of the future – which gives them the chance to meet teenage patients with these illnesses and talk to them in detail about what their lives are like. With these insights, doctors will be empowered early in their careers to provide medical care with a much greater understanding of their patients’ needs.