Overview
Definition:
Ehlers-Danlos syndromes (EDS) are a group of inherited disorders that affect connective tissues, primarily the skin, joints, and blood vessel walls
They are characterized by a spectrum of clinical manifestations, with joint hypermobility and chronic pain being prominent features in many subtypes, particularly hypermobile EDS (hEDS)
EDS is caused by defects in collagen or related proteins that provide strength and elasticity to these tissues.
Epidemiology:
The exact prevalence of all EDS types is difficult to ascertain due to underdiagnosis and the spectrum of severity
Hypermobile EDS (hEDS), the most common type, is estimated to affect 1 in 2,000 to 1 in 5,000 individuals worldwide, though some estimates suggest it could be more common
Other rarer EDS types have significantly lower incidences
EDS can affect individuals of all genders and ethnicities.
Clinical Significance:
Understanding EDS in pediatrics is crucial due to its impact on a child's growth, development, and quality of life
Chronic pain, frequent joint dislocations, and potential organ fragility can lead to significant disability, psychological distress, and a need for multidisciplinary care
Early diagnosis and appropriate management can improve outcomes and prevent serious complications, making it a vital topic for pediatricians preparing for DNB and NEET SS examinations.
Clinical Presentation
Symptoms:
Generalized joint hypermobility, often evident from early childhood
Chronic, widespread musculoskeletal pain that can be debilitating
Frequent joint sprains and dislocations, particularly affecting ankles, knees, and shoulders
Easy bruising of the skin
Poor wound healing and atrophic scarring
Fatigue
Gastrointestinal issues such as reflux or constipation
Headaches and migraines
Anxiety and depression related to chronic pain and physical limitations.
Signs:
Beighton score of 5/9 or higher in children and adolescents (or 4/9 in adults)
Lax ligaments leading to joint instability
Reduced muscle tone (hypotonia) in younger children
Hypermobile digits (e.g., thumb to forearm sign, fifth finger to forearm sign)
Pes planus (flat feet)
Protrusio acetabuli
Scoliosis or kyphosis
Fragile skin that tears easily, with characteristic atrophic (cigarette-paper) scars
Mitral valve prolapse may be present in some individuals.
Diagnostic Criteria:
Diagnosis of EDS relies on a combination of clinical criteria, family history, and sometimes genetic testing
For hypermobile EDS (hEDS), the 2017 International Classification criteria are widely used, which include: the Beighton score for hypermobility, presence of specific systemic symptoms related to connective tissue, and exclusion of other diagnoses
Other subtypes may have specific genetic markers or distinct clinical findings for diagnosis.
Diagnostic Approach
History Taking:
Detailed history of joint pain, instability, dislocations, and injuries
Age of onset of hypermobility and pain
Any history of easy bruising, poor wound healing, or skin fragility
Family history of EDS or connective tissue disorders
Presence of other symptoms like fatigue, GI issues, headaches, or cardiovascular concerns
Impact of symptoms on daily activities and school performance.
Physical Examination:
Systematic assessment of joint range of motion using the Beighton score
Examination of skin for texture, elasticity, fragility, and scarring
Palpation for joint effusions or tenderness
Assessment of gait and posture
Examination of the spine for scoliosis or kyphosis
Auscultation for cardiac murmurs, especially mitral valve prolapse
Evaluation for pes planus and other foot deformities.
Investigations:
Genetic testing is crucial for diagnosing specific subtypes of EDS with known genetic defects (e.g., COL3A1 sequencing for vascular EDS)
For hEDS, genetic testing is not typically diagnostic
Echocardiography to assess for cardiac abnormalities, particularly mitral valve prolapse or aortic root dilation
Plain radiography or MRI may be used to evaluate joint damage, dislocations, or spinal abnormalities
Blood tests are generally not specific for EDS but may be used to rule out other conditions.
Differential Diagnosis:
Other causes of joint hypermobility and pain should be considered, including: Marfan syndrome (tall stature, long limbs, lens dislocation), Loeys-Dietz syndrome (similar to Marfan but with arterial tortuosity), Joint Hypermobility Syndrome (now considered part of hEDS), Osteogenesis imperfecta (bone fragility, blue sclerae), Fibromyalgia (widespread pain without structural joint issues), Juvenile idiopathic arthritis (inflammatory joint pain, swelling), Muscular dystrophies (muscle weakness)
Differentiating between these conditions requires careful clinical assessment and targeted investigations.
Management
Initial Management:
Multidisciplinary approach involving pediatricians, rheumatologists, physiotherapists, occupational therapists, pain specialists, and genetic counselors
Education of the child and family about the condition, prognosis, and management strategies
Pain management is a cornerstone of care.
Medical Management:
Analgesics for pain relief, starting with acetaminophen or NSAIDs if appropriate
For chronic or severe pain, neuropathic pain agents like gabapentin or pregabalin may be considered
Antidepressants (e.g., duloxetine, amitriptyline) can be effective for pain management and managing comorbid anxiety or depression
Muscle relaxants may be used cautiously for muscle spasms.
Surgical Management:
Surgical interventions are generally reserved for specific complications, such as severe joint dislocations unresponsive to conservative management, or to correct significant musculoskeletal deformities (e.g., scoliosis)
Surgery in individuals with EDS can be challenging due to fragile tissues and poor wound healing, requiring careful planning and execution
Stabilization of joints through orthopedic surgery is sometimes considered.
Supportive Care:
Physical therapy is paramount, focusing on strengthening muscles around hypermobile joints to improve stability and reduce pain, without overstretching
Occupational therapy can assist with adapting daily activities, assistive devices, and pain management strategies
Gradual and progressive exercise programs are encouraged
Hydrotherapy can be beneficial for pain relief and muscle strengthening
Psychological support for anxiety, depression, and coping with chronic pain is essential.
Complications
Early Complications:
Acute joint dislocations and subluxations
Sprains and strains
Skin tears and lacerations
Hematomas from minor trauma
Acute pain exacerbations.
Late Complications:
Chronic joint pain and stiffness
Degenerative joint disease (osteoarthritis) at an earlier age
Scoliosis or kyphosis
Recurrent dislocations leading to chronic instability
Pelvic organ prolapse (in females, later in life)
Cardiovascular complications (e.g., aortic root dilation, arterial dissection/rupture in specific subtypes)
Chronic fatigue
Psychological distress, including anxiety and depression.
Prevention Strategies:
Education on joint protection and avoiding hypermobile positions
Gradual and supervised exercise programs to build muscle strength
Use of supportive bracing or splinting when necessary
Careful management of wounds and skin integrity
Regular monitoring for cardiac and spinal abnormalities
Early intervention for pain and psychological support.
Prognosis
Factors Affecting Prognosis:
The prognosis for EDS varies greatly depending on the specific subtype and the severity of manifestations
Individuals with hEDS generally have a normal lifespan but can experience significant chronic pain and disability
More severe subtypes (e.g., vascular EDS) have a poorer prognosis due to risk of life-threatening vascular events
Early diagnosis and comprehensive management can improve quality of life and manage symptoms effectively.
Outcomes:
Many individuals with hEDS can achieve a good quality of life with appropriate management, though chronic pain and fatigue may persist
Regular physical and occupational therapy can help maintain function
Psychological support is vital for coping with long-term symptoms
Lifespan is generally not affected in hEDS, but complications in other subtypes can impact longevity.
Follow Up:
Regular follow-up with a multidisciplinary team is recommended, particularly by pediatricians and rheumatologists
Frequency of follow-up depends on the severity of symptoms and presence of complications
Periodic cardiac assessments (echocardiography) and orthopedic evaluations may be necessary
Monitoring for mental health and pain management strategies should be ongoing.
Key Points
Exam Focus:
Recognize the key features of EDS in pediatric patients: joint hypermobility (Beighton score), chronic pain, easy bruising, and poor wound healing
Differentiate hEDS from other EDS subtypes and similar conditions
Understand the diagnostic criteria for hEDS
Emphasize the importance of a multidisciplinary approach to management, with a focus on physical therapy and pain management.
Clinical Pearls:
Always consider EDS in a child presenting with recurrent dislocations, chronic pain disproportionate to trauma, or significant bruising
The Beighton score is a simple yet effective screening tool
Be mindful of associated symptoms like GI issues, headaches, and anxiety
Educate parents that EDS is a chronic condition requiring long-term management.
Common Mistakes:
Underdiagnosing EDS due to subtle presentations or attributing symptoms solely to "growing pains." Failing to differentiate between hypermobile EDS and other subtypes with potentially more severe systemic risks
Over-reliance on imaging without a thorough clinical evaluation
Inadequate pain management strategies or a lack of multidisciplinary care
Aggressive physical therapy that may worsen joint laxity.