Hypermobility at the 5th metacarpophalangeal joint
Hypermobility of the thumb showing the thumb touching the volar aspect of the forearm
Hypermobile knee with marked hyperextension on weight-bearing
Laboratory tests may be done to rule out other more serious conditions which may have similar symptoms, e.g. inflammatory conditions such as juvenile idiopathic arthritis (JIA), other forms of Ehlers-Danlos syndrome and Marfan’s syndrome. Findings of markedly hyperelastic skin, herniae and lenticular abnormalities are not usually seen in BJHS, but relatively easy bruising and poor wound healing may be seen, indicating some overlap with these defined genetic conditions [36–38].
Spondylolysis and spondylolisthesis may need to be considered in adolescents with severe back pain .
As most symptoms are related to the lack of muscle control of the hypermobile joints, it is extremely important to examine the muscle strength associated with the function of the joint.
Presenting Problems and Common Symptoms
Joint and/or muscle aches and pains: Often occurring after activity or during the night, more often lower limb than upper.
Muscle and joint stiffness: Usually after exercise or increased activity and may occur for a few days after increased activity, it is not uncommon for this to still be present in the morning and for a day or two after exercise.
Swelling: Occasionally mild swelling or puffiness, and more rarely joint effusions, may occur at very hypermobile joints, but only lasts for hours or, very occasionally, days. The prevalence of symptoms is variable but is more common in the lower limbs.
Fatigue: Often associated with reduced walking distance and reduced exercise tolerance and/or difficulties attending fulltime education due to tiredness. This symptom is commonly linked to the level of deconditioning of the child. Poor sleep also impacts upon fatigue levels.
Fidgetiness: difficulty sitting still and poor organisation of movement are very commonly reported in children who are very flexible.
Headaches: This is often related to muscle spasm of the trapezius muscles and is often worse during episodes of stress, such as during exams.
Poor sleep: It is often difficult for young people to sleep when their pain is severe or wakes them at night time. Frequently the more disturbed the sleep, the worse the pain is, and this is often linked to the development of a pain syndrome.
Easy bruising: This is benign and not of concern.
Clicking joints: Joints can click spontaneously or be clicked deliberately; both are fine and can be performed safely many times a day. This only becomes a concern if clicking becomes habitual and obsessive, impacting on the quality of life.
Reduced co–ordination and balance: Poor proprioception has been recognised in hypermobile joints leading to clumsiness and reduced balance. Poor core stability can lead to difficulties with hand writing and other issues with fine motor control, especially involving small grip function. An assessment for a developmental co-ordination disorder (DCD) is advisable if these symptoms have a significant impact upon activities of daily living (ADLs), if the gross motor skills are significantly below those expected for chronological age and intelligence level, or if they do not improve with improvement of strength.
Response to local anaesthetic: There is very little evidence to support this concern; however, it has been reported that some people with JHS may have a reduced effect of a local anaesthetic.
Abdominal pain: This is common in childhood generally, and the incidence may be slightly higher in children who are hypermobile. Constipation is a common cause of abdominal pain.
Back pain: Back pain in children may require thorough investigation and assessment; however, one of the most common differential diagnoses is hypermobility. Back pain is commoner in adolescents and is often related to a particular physical activity, poor posture or carrying heavy school bags. The pain may affect the whole spine or a specific area only and often results in an ‘s’-shaped posture with an increased curve in the cervical, thoracic and lumbar regions. The pain is often due to acute muscle spasm and if not managed appropriately in the early stages may result in chronic back pain, continuing poor posture and the associated difficulties these bring [27, 39].
Idiopathic scoliosis is also linked to hypermobility; it is often functional rather than pathological, but it should be taken seriously and monitored closely, and a very strict core central stability and strengthening programme should be prescribed .
It is important to remember that many of these symptoms are normal variants in the general population, and care must be taken to ensure that there is a balance between medical investigation and effective symptom management.
Additional but Rare Symptomatology
Some children with JHS have been found to have an increased frequency of problems relating to the autonomic nervous system. Symptoms of autonomic dysfunction can occur at any age .
Gastrointestinal and Urinary Tract Symptoms
Children and young people with JHS may have non-specific gastrointestinal symptoms, such as nausea, stomach ache, diarrhoea and constipation. Faecal and urinary incontinence can also be a feature of the condition. However, these symptoms are also very common in children generally and may not be related to their hypermobility.
In very rare cases a disease called ‘eosinophilic colitis’ may be present. This is a condition that has been reported to cause constipation and difficulty maintaining a healthy weight. It is often linked to food intolerances and can be well controlled with the guidance of a specialist gastroenterologist [41–43].
Cardiovascular Autonomic Dysfunction
Patients with JHS may describe symptoms of cardiovascular autonomic dysfunction, which affects heart rate, blood pressure and blood flow. Again, these symptoms are very common throughout the general population especially during adolescence. Orthostatic hypotension which is a fall in blood pressure upon standing causes symptoms such as venous pooling, dizziness, light-headedness and syncope. Orthostatic intolerance is where symptoms appear after periods of standing and can include fatigue, light-headedness, hyperventilation, sweating, paleness, anxiety and acrocyanosis.
Postural Orthostatic Tachycardia Syndrome (POTS)
POTS is characterised by a rapid rise in heart rate on standing (30 beats per minute above lying down heart rate). A common age of onset for POTS symptoms is during adolescence. Symptoms of POTS can include light-headedness and dizziness (particularly on standing), fainting, heart palpitations or a racing heartbeat and non-specific fatigue.
Diagnosis of POTS is not easy, and though it is often done by performing a tilt table test (or standing and lying heart rate if tilt table unavailable), this has not been validated in normal children and adolescents: the results of the tilt table test have to be interpreted with care. Treatment for POTS is available and usually involves simple measures such as increased fluid and salt intake. Exercise has been shown to be the most effective management for this aspect of JHS, and medication should be used with caution [40, 44].
Other Cardiac Features
Increased aortic root size and mitral valve prolapse had been reported to be more common in patients with JHS, but current evidence suggests they are usually of little clinical consequence and are extremely rare. Referral to a cardiologist should be considered carefully, as increasing a child’s anxiety can be unhelpful in these patients [45, 46].
Complex Regional Pain Syndrome
This condition is considered more neuropathic in pathogenesis, and the clinical presentation is distinct with the limb being extremely hypersensitive (allodynia) with colour and temperature changes. The limb will be swollen and very stiff, and the young person will hold it frequently in an abnormal position with hypervigilance to avoid any movement or touch to the area from themselves or anyone else. This is an exceptionally painful condition and is often very frightening to experience.
The most important treatment required to resolve the symptoms will be to regain active movement as soon as possible and then regain full strength and function. However, in order to be able to do this, the young person needs to learn effective pain management techniques: this may need work with a psychologist. The use of medication needs to be done carefully; there is no medication that has been effective in resolving the pain unless it has been used in conjunction with regaining movement. The young person and their family have to actively participate in the programme of care. They need to understand that though the movement and touch hurt, it is not causing damage and in fact will resolve the pain. On the contrary, immobility and escalation of pain medication may cause harm and will not resolve the symptoms.
Management of Hypermobility and Pain Syndromes
The management of hypermobility and pain syndromes can be complex, but if the treatment is considered within a biopsychosocial model, then all components of treatment should be provided.
It is usually understood that pain is a warning about damage to the body. When this is the case, a reasonable response to the pain would be to withdraw or avoid activity.
However, in these pain conditions, pain is an indication that the body is not strong enough to do the task and that it requires strengthening. This means that the young person will need to keep engaging in everyday activities and exercise, not do less.
Similarly fatigue is not necessarily an indication that more rest is required. Rather, it may signal that the body requires more fitness training, pacing of activities and better sleep hygiene. It is important to recognise that normal sleep patterns change as children become adolescents and then adults. This needs to be taken into account when assessing fatigue levels and sleeping patterns.
Gradually increasing activity levels and exercise is the most effective cure for fatigue during the day, if there is a slump in energy levels, a small snack and a brisk walk or other types of exercise will often rejuvenate the body in order to continue with the day’s activities.
The key to success is to ensure that the family and child understand the diagnosis and that further investigations are unnecessary. It is vital that the young person and their family also realise that the control of their symptoms and improvement of their function have to come from active participation in the treatment and self-management of symptoms and that neither medication nor surgery will be required.
It is important to listen to the symptoms and concerns of the child and their family and to take a detailed history of the pain and symptoms. However, it is also important to also ask about the other biopsychosocial components in their lives such as school, friendships, sport as well as discussing their mood and feelings. It is important that they understand that you are considering all the aspects that may impact upon their pain but that you are not saying that you do not believe their symptoms.
Assessing range of movement is important to be able to determine the degree of hypermobility in each joint. Though there are many scoring systems designed, these are mainly used for research, and it is advisable to assess each joint individually to determine exactly which joints are hypermobile or not.
Stretchy skin can often be an indication of hypermobility and may be associated with easy bruising and poor skin healing. Stretch marks are also more common in adolescents with hypermobility and become apparent during the growth period. There are a group of children with JHS (Ehlers-Danlos syndrome) who have more stretchy skin than normal and who often have a ‘doughy’ feel to their muscles. These muscles are often harder to strengthen and do not hold their strength after completing a training programme without continued exercising .
Biologically the muscle control of the joints is the most important component for managing the symptoms, and so it is vital to assess the key muscle groups that are required to stabilise each joint. Assessing muscle control of the hypermobile range is vital, and it is important to consider that the muscle needs to be stronger than average to control the hypermobile joint.
Stamina and Fitness
Children with hypermobility or pain syndromes are usually generally unfit and have very poor stamina. This is often assessed subjectively, as the ‘6 min walk test’ is time consuming .
Posture and Gait
As with any musculoskeletal assessment, it is important to observe the posture and gait of the child and to watch for any abnormalities in this due to the hypermobility [52, 53]. The most common postural disturbances are:
Hyperlordosis of the lumbar spine and increased kyphosis of the thoracic spine
Hyperextension of the knees in the weight-bearing position
The most common changes to gait are:
Poor heel-toe strike
Over-pronation at the ankle
Flexion at the knees
Flexion and internal rotation at the hips
Positive Trendelenburg sign
Balance and Proprioception
Diminished balance and poor proprioception can be issues for children with JHS, as discussed previously, and these need to be assessed at the initial stage. Balance can be tested by asking a child to stand on one leg at a time and observing postural sway to give a simple measure, which can be progressed further by asking them to close their eyes at the same time. Removing the visual input will assess proprioception more specifically.
Once the child is fully assessed and the specific difficulties identified, each issue can then be addressed by an individualised rehabilitation programme.
Aims of Treatment
It is a common misconception that the purpose of treatment is to reduce the range of mobility of the joints. Rather, the main purpose of a rehabilitation programme is to improve joint stability and control whilst maintaining the full hypermobile range of movement which is normal in each hypermobile child. Therefore, the aims of treatment are:
Increase the strength of the muscles, especially into the hypermobile range.
Improve the stamina of the muscles.
Improve the general fitness of the child.
Re-educate the gait to avoid/correct any abnormalities in the biomechanics.
Teach the child and family effective pain management techniques, such as active relaxation, distraction, guided imagery and awareness of factors that increase pain.
Return to normal activities and functioning.
Educate the child and family to enable them to continue to manage the condition with minimal reliance on medical input, external support or medication.
Review any psychosocial factors that may be influencing and maintaining the pain.
Success in achieving these aims will help to ensure that the child has a stable joint or joints, protected by strong, fit muscles which will enable them to manage their symptoms independently. Often a combination of a small and specific rehabilitation programme with regular sporting activities is a very effective approach to reducing the symptoms of JHS.
A Multidisciplinary Team
As some young people with these conditions can present with a wide variety of difficulties, they may need to be seen by a number of different professionals who must ensure that they communicate with each other in order to provide a cohesive management programme.
It is helpful for families to understand that the symptoms the young person is experiencing are not life threatening and are unlikely to be permanent.
The aim for young people and their families is for them to develop the skills and knowledge in order to manage the symptoms and participate in all activities. For the best chance of success, parents and adolescents should be fully involved in the treatment plan, and age-appropriate language must be used with children. People with JHS do benefit from maintaining a healthy everyday life. A well-balanced diet, regular gentle exercise, full participation in school and activities as well as quality sleep all play their part. Children and adolescents may benefit from advice on best technique for carrying out tasks of daily living, to avoid placing unnecessary strain on their joints and minimising pain. Often encouragement is needed to include appropriate exercise into their daily routines. It is well recognised that significant periods of inactivity greatly exacerbate symptoms of JHS. A good understanding of pacing activities needs to be developed by children and adolescents with JHS in order to avoiding the ‘boom and bust’ cycle (overexertion leading to pain and fatigue). As children and adolescents grow up, gaining an understanding of themselves and JHS will help them develop the motivation needed to manage their condition and develop a healthy lifestyle incorporating regular exercise.
Recognition and management of chronic pain is an important part of helping children with JHS. Pain can affect concentration, memory, mood and sleeping. If appropriate, a referral to a unit that is confident with the management of chronic pain in children may be helpful. Chronic pain is most effectively managed with a combination of physical and psychological techniques. Pain medications are often ineffective and the side effects should be carefully considered. Pain management interventions can be provided by physiotherapists, occupational therapists and psychologists depending upon the local service provision. The aim of pain management is to improve the quality of life. Therefore, patient-led goals will be an important part of boosting motivation to engage in the self-management programme. Fear of the unknown can be a big source of anxiety for both the young person and their family, so education and addressing unhelpful personal beliefs can reduce such fears. Cognitive restructuring can help to recognise unhelpful behaviours, such as excessive rest, and establish new patterns of reasoning. It is important to identify any catastrophising and avoidance behaviours and to recognise their role in the fear cycle.
For children and young people with JHS, it is also helpful to consider their relationships with others. Parents can be hugely disempowered if their child is experiencing pain. It is therefore important to help parents to develop strategies that they can use to ensure they promote positive rather than unhelpful patterns of behaviour for their child.
It is helpful to establish realistic expectations. There will be times of increased pain, for example, after a lot of sport or injury, and a management plan for dealing with these times should be discussed. It is really important to ensure that at these times, rest is not promoted for long periods of time.
In general, medical approaches to pain management are not thought to be particularly beneficial for JHS, with patients reporting that analgesics have limited effect and there is the disadvantage of side effects that come with certain medicines.