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Ehler’s Danlos Syndrome

Maladywise

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