Pediatric Hypermobility, Ehlers-Danlos Syndrome, Marfan Syndrome and Osteogenesis Imperfecta

Paediatric Hypermobility

INTRODUCTION

Joint hypermobility syndrome encompasses a variety of disorders where the underlying mechanism is a problem with connective tissue due to issues with collagen. These include Benign Joint Hypermobility Syndrome (BJHS), Ehlers-Danlos Syndrome (EDS), Marfan Syndrome and Osteogenesis Imperfecta. All these disorders are classified as hereditary connective tissue disorders (HCTDs). Connective tissue is found throughout the body (ligaments, tendons, joints, the digestive tract, heart, eyes), so JHS does not just affect the joints but it can also affect skin extensibility, digestion and in more severe connective tissue disorders, it can affect heart function. Secondary manifestations to hypermobility include trauma; dislocations, subluxations and soft tissue injury; Acute pain and loss of function; early joint degeneration; chronic pain; long term complications and hyperalgesia so if you are concerned that you, or someone around you has hypermobility, please see your local GP, podiatrist of physio.

 

Benign Joint Hypermobility Syndrome 

OVERVIEW

A common form of hypermobility is Benign Joint Hypermobility Syndrome (BJHS) which is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic disease processes. BJHS is thought to be inherited and is identified by hypermobility and pain in multiple joints which is related to the defect in collagen. In BJHS the excessive laxity leads to wear and tear on joint surfaces which strain and fatigue the soft tissue surrounding the joint. In addition to this, there is some evidence to suggest that proprioception is impaired resulting in further joint trauma from impaired sensory feedback. BJHS is a non-progressive, non-inflammatory disorder which is often seen in children and tends to be a self-limiting condition. There many also be other signs of connective tissue disorders such as scoliosis, pes planus foot type (flat feet), genu valgum (kocked knees), lordosis (excessive inward curvature of the spine in the lower back, patella subluxation or dislocation, Marfanoid habitus (tall thin stature and long digits), varicose veins, rectal or uterine prolapse and thin skin.

To diagnose this condition and identify the painful structure and likely causative factors, we will conduct an in-depth assessment, including:

• Thorough history including family history.
• Strength and range of motion testing, especially a Beighton’s score
• Biomechanical and gait assessment
• Evaluation of work, leisure activities and training programs that may exacerbate the condition.
• Evaluation of footwear
• Referral for appropriate imaging (x-ray, ultrasound, MRI, CT etc.) if indicated.

To reach a true diagnosis of BJHS, syndromes such as Ehlers-Danlos syndrome, Marfan’s, osteogenesis Imperfecta and juvenile Rheumatoid arthritis must be excluded.

TREATMENT

Like all hypermobility syndromes, BJHS cannot be cured however it can be managed effectively with your podiatrist. Acute symptoms such as joint pain can be managed with over-the-counter medications such as NSAIDs like ibuprofen and Panadol, as well as rest from activities. Treatments such as physical therapy and joint protection can also assist with acute management. Long term your podiatrist can advice modification to activities, advising NSAIDs prior to activities, strengthening programs with resistance, balance control to improve proprioception. Your podiatrist can also educate you about splints and taping and orthoses to provide support to the hypermobile lower limb as well as advise you on supportive footwear. In addition to this we can also provide joint mobilisation to reduce joint pain and improve joint stability and proprioception.

For further information regarding Hypermobility in children please follow: https://arthritisaustralia.com.au/types-of-arthritis/hypermobility-syndromes/

Ehlers-Danlos Syndrome

OVERVIEW

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders which affect your connective tissue in your skin, joints, and blood vessel walls. There are 13 different types of this syndrome with the most common form Hypermobile Ehlers-Danlos Syndrome. Each of the types of EDS are classified according to the signs and symptoms manifested by the individual. People who have Ehlers-Danlos syndrome usually find they have very flexible joints, bruise easily and have stretchy, fragile skin. A more severe form of this syndrome, called vascular Ehlers-Danlos syndrome, can calls the walls of blood vessels, intestines, or uterus to rupture. This is due to collagen becomes disorganised and alters in size and shape.

The most common signs of this syndrome include:

• Hyperflexible joints, as the connective tissue that holds joints together is looser, making joint pain and dislocations common as well as strains and sprains due to joint instability.
• Stretchy fragile skin, as the weakened connective tissue allows the skin to stretch more than usual, the skin can also feel soft and velvety.
• Easy bruising
• Muscle pain
• Muscle fatigue
• Chronic degenerative joint disease
• Premature osteoarthritis
• Chronic pain
• Heart valve problems

Symptoms of Ehlers-Danlos vary from person to person depending on the specific type of EDS however sometimes people with EDS have distinct fascial features such as thin nose, thin upper lip, large eyes, and ears without lobes. Depending on the type of EDS congenital talipes equinovarus (club foot) can be seen, congenital or early-onset kyphosis (abnormal curvature of the spine) arachnodactyly (long and slender fingers and toes) and hypotonia and gross motor delay can occur.

To diagnose this condition and identify the painful structure and likely causative factors, we will conduct an in-depth assessment, including:

• Thorough history including family history.
• Strength and range of motion testing
• Biomechanical and gait assessment
• Evaluation of work, leisure activities and training programs that may exacerbate the condition.
• Evaluation of footwear
• Referral for appropriate imaging (x-ray, ultrasound, MRI, CT etc.) if indicated.

If we suspect EDS we will liaise with your doctor as a genetic test might be done to confirm the diagnosis.

Complications of EDS include chronic joint pain, poor wound healing, failure of surgical wound closure, early-onset arthritis, and epilepsy so if you or your podiatrist suspects that you might have EDS, working closely with your GP is crucial, especially as life expectancy can be shortened with vascular EDS.

TREATMENT

There is no cure for Ehlers-Danlos syndrome, however treatment can be advised to help manage symptoms and prevent complications.

Your podiatrist can help advise you on exercises to strengthen the muscles and stabilise the joints as well as specific foot orthotics and braces to stabilise joints and prevent dislocation or injury as well as advice to avoid contact sports, lifting weights and activities that raise intercranial pressure like playing the trumpet. Your podiatrist will also advise you to wear sunscreen to protect your skin and to avoid harsh soaps and chemicals.

Your podiatrist will work closely with your doctor as your doctor can prescribe medication such as pain relief or blood pressure medications depending on the type of EDS that you have.

Occasionally, surgery can be indicated for repair of joints damaged due to repeated dislocations, and if this is the case, your podiatrist will work closely with your orthopaedic surgeon.

 

Marfan’s Syndrome 

OVERVIEW

Marfan’s Syndrome is another connective tissue disorder that mainly effects the skeletal system such as the bones and joints, cardiovascular system such as the heart and blood vessels and the eyes.

The main characteristics of Marfan’s are people with tall, thin stature with long extremities (arms, legs, fingers, and toes are disproportionately long in relation to the rest of the body), have eye problems where one or both eye lenses dislocate and cardiovascular issues such as heart murmurs, irregular heartbeat or in very severe cases, aortic aneurysms, which can be potentially fatal. Marfan’s is causes be a defect in the gene on chromosome 15 which determines a major component of elastin associated microfibrils found in connective tissues, large blood vessels and suspensor ligaments of the eye lenses. This is, in most cases, an inherited condition which affects 1 in 5,000 individuals, with three quarters inheriting the condition, however a quarter of people have a spontaneous mutation in the gene.

Whilst the signs and symptoms of Marfan’s vary greatly, often the skin appears with stretch marks which develop without any significant weight change and often appear at sights subject to stress such as buttocks, lower back, hips, and shoulders. Abdominal and inguinal hernias also can occur. In addition to this, people with this condition have often a curved spine, their chest skinks in or sticks out, flexible joints, flat feet and crowded teeth however these will vary from person to person.

To diagnose this condition and identify the painful structure and likely causative factors, we will conduct an in-depth assessment, including:

• Thorough history including family history.
• Strength and range of motion testing
• Biomechanical and gait assessment
• Evaluation of work, leisure activities and training programs that may exacerbate the condition.
• Evaluation of footwear
• Referral for appropriate imaging (x-ray, ultrasound, MRI, CT etc.) if indicated.

If you podiatrist suspects that you do have Marfan’s they will refer you to your GP for further examination and whilst working closely with them to offer supportive therapy.

TREATMENT

Whilst there is no cure for Marfan’s, your GP will work with a cardiologist, ophthalmologist, and orthopaedic surgeon to review regularly, as well as a physical therapist such a podiatrist, working in a multidisciplinary team.

In addition to this, you can work with your podiatrist in strengthening programs, getting bracing or orthotics to support your lower limbs and prevent injury as well as joint mobilisation therapies. Your podiatrist will also advise avoiding strenuous exercises and over the counter pain medication if indicated however your treatment plan will be tailored to your goals and wishes.

 

Osteogenesis Imperfecta 

OVERVIEW

Osteogenesis imperfecta is a rare and genetic condition often referred to as brittle bone disease. In this condition there is low bone mass and the bones are abnormally brittle from birth. This is where the bone fractures easily and frequently and deformity occurs from birth, however increase as children begin to walk. There can also be deafness and the whites of the eyes can appear blueish in colour, short statue, triangle shaped face, brittle teeth, bowed legs and hypermobility of ligaments and skin.  There are 7 types of osteogenesis imperfecta based on clinical characteristics varying from mild to severe and scoliosis present in most types. Diagnosis occurs from clinical symptoms, genetic testing, family history  and blood tests.

TREATMENT

Similar to other hypermobility syndromes there is no cure to Osteogenesis Imperfecta however care approach is multidisciplinary overseen by your GP. Treatments are inclusive of medication, immobilisation (such as casting/bracing/splinting), exercise programs to keep moving and reduce immobility induced bone loss and rehabilitation of mobility and functional capabilities.