Ehler’s Danlos Syndrome
Overview
Joint hypermobility is common affecting 10 to 20% of the population. Sometimes it is part of an underlying connective tissue disorder including Marfan’s Syndrome, Stickler Syndrome, Loeys-Dietz syndrome and hypermobile Ehlers-Danlos syndrome.
The current nomenclature includes:
Hypermobility Spectrum Disorder (HSD) - describes everyone with a symptomatic hypermobility-related condition who does not fulfil the more stringent criteria for hEDS or for another hereditary disorder of connective tissue (HDCT)
Hypermobile Ehlers-Danlos Syndrome (hEDS) - needs to fulfil the official criteria listed below. You can download the current 2017 hEDS criteria in PDF form. The current criteria is as follows:
Natural History
People with hypermobility-related conditions such as hEDS and HSD may develop:
Recurrent soft tissue injuries
Fatigue
Chronic regional or widespread pain
Declining physical capacity
Anxiety states
Autonomic cardiovascular problems
Bowel dysfunction
Cause
The cause of HSD and hEDS is not fully understood. The pattern for HSD and hEDS is generally a dominant inheritance pattern.
Symptoms
Musculoskeletal
Recurrent joint sprain, ligaments and tendon injuries
Mechanical pain
Persistent chronic pain in one or many joints
Complex widespread musculoskeletal pain
Episodes of recurrent joint instability
Poor coordination and loss of balance
Marfanoid features
Skin
Hyperextensible skin
Easy bruising
Wide, paper-thin scars
Multiple stretch marks, usually during adolescence
Other
Recurrent abdominal wall hernias
Pelvic floor weakness with rectal and/or vaginal prolapse
Bladder dysfunction
Bowel symptoms suggestive of functional gastrointestinal disorders
Bowel dysmotility
Heavy and painful menstrual bleeding
Disabling persistent fatigue
Anxiety, depression and phobia (e.g. fear of movement)
Autonomic dysfunction
Palpitations, chest pain, fainting
Skin colour changes
Abnormal sweating
Diagnosis
Using the criteria listed above. Also hEDS criteria in PDF form here.
Differential diagnosis
Joint hypermobility
Marfan Syndrome
Loeys-Dietz syndrome
Other EDS syndromes
Treatment
All patients
Patient education and instruction in self-management
Physical and occupational therapy, including exercise, therapy, splinting and orthoses.
Select patients
Chronic widespread pain - multidisciplinary management with medication, exercise and psychosocial measures
Anxiety and / or depression - medical management, psychotherapy, and other behavioural measures
Fatigue - Medical and behavioural management of pain, sleep, and autonomic dysfunction.
Speciality referral
Education
Patient information available at
Musculoskeletal
Physiotherapy and occupational therapy are important
Improve stability and strength
Avoid injury
Help overcome physical concerns
Splints and orthoses
Improve joint alignment
Provide stability
Chronic widespread pain
Individualised treatment for patients
Pharmacological treatments
Paracetamol
Anti-inflammatories
Antidepressants
Anti-seizure medication
Muscle relaxants
Specialist pain teams
Anxiety and Depression
Individualised approach
Multidisciplinary team
Medication
Psychologist
Psychiatrist
Fatigue
Look for all possible causes
Often the management of fatigue is managing pain, sleep patterns and autonomic dysfunction
Autonomic dysfunction
Refer to cardiology
Gastrointestinal
Manage function bowel disorders
Refer to gastroenterology
Genitourinary
Treat interstitial cystitis
Refer to Urology or Gynaecology if prolapse
Bruising
Refer to Haematology if significant issues
Muscle weakness
Consider neurology
Spinal instability
Consider neurosurgery
References
Clinical manifestation of hEDS - Up to Date
Treatment of hEDS - Up To Date