Area of practice

Hypermobility accompanied by symptoms calls for structured assessment.

Ehlers-Danlos Syndrome comprises hereditary connective tissue conditions with joint, cutaneous and systemic repercussions. The hypermobile subtype is assessed clinically, against current international criteria.

What it is

Connective tissue supports joints, skin, vessels and organs. Alterations in collagen change the balance between firmness and elasticity in these tissues. In the hypermobile subtype — the most frequent — the presentation combines joint hypermobility, musculoskeletal pain and associated systemic manifestations.

Signs and symptoms

Ehlers-Danlos Syndrome

This list is informational and is not a self-diagnosis instrument. Isolated signs do not characterize the condition. Medical assessment considers the whole picture, its evolution and the applicable diagnostic criteria.

Joints

  • Range of movement beyond the usual
  • Recurrent dislocations and subluxations
  • Sprains with minimal trauma
  • Diffuse musculoskeletal pain

Skin

  • Soft or velvety skin
  • Atypical scarring
  • Tissue fragility

Autonomic

  • Dizziness on standing
  • Palpitations
  • Orthostatic intolerance

Digestive

  • Reflux
  • Constipation
  • Dysmotility

Systemic

  • Disproportionate fatigue
  • Non-restorative sleep
  • Chronic pelvic pain

Situations that warrant investigation

Hypermobility associated with chronic pain or repeated dislocations

Family history of hypermobility accompanied by symptoms

Coexistence with orthostatic intolerance or mast cell symptoms

Chronic pelvic pain or severe cramps in a person with hypermobility

Criteria and evidence

How the assessment is conducted

There is no laboratory or genetic test that confirms the hypermobile subtype. Assessment is clinical and follows the 2017 international consensus criteria.

Beighton score

A standardized, internationally validated instrument for objectively measuring joint hypermobility.

2017 systemic criteria

Assessment of cutaneous features, dislocation history, chronic pain and other criteria defined in the international consensus.

Differential diagnosis

Ruling out other hereditary connective tissue conditions, which requires specific knowledge of the spectrum.

Associated comorbidities

Active assessment of orthostatic intolerance, mast cell symptoms and sleep disorders, whose presence modifies case management.

Approach

How the investigation is conducted.

A defined path, with stages that build on one another. Each consultation begins where the previous one ended.

  1. Listening and clinical timeline

    Reconstructing the trajectory: when each symptom appeared, what preceded it, how it evolved and what has already been investigated. The order of events often points to the mechanism.

  2. Integrating symptoms and systems

    Joint analysis of skin, digestive tract, cardiovascular system, sleep and cognition. Symptoms treated as separate fragments rarely reveal what they share.

  3. Hypotheses and targeted testing

    Tests chosen from defined hypotheses, with attention to the correct moment of collection. In some conditions, the result depends on when the sample is taken.

  4. Plan, follow-up and referrals

    Reasoned direction, with follow-up of the response and, when the presentation calls for another specialty, the appropriate referral.

Criteria and limitations

Criteria and limitations

Isolated, asymptomatic hypermobility is common in the population and does not, in itself, characterize the syndrome.

The hypermobile subtype has no identified genetic marker. Other subtypes do, and differentiation is part of the assessment.

The Beighton score is one instrument among others. On its own it neither establishes nor excludes the condition.

First contact

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Frequently asked questions

Is there a test that confirms hypermobile EDS?

Not for the hypermobile subtype. Assessment is clinical, based on the Beighton score, the 2017 international systemic criteria and the exclusion of other connective tissue conditions. Other subtypes have identified genetic markers.

Does being flexible mean having the syndrome?

No. Isolated, asymptomatic hypermobility is common. What prompts assessment is hypermobility accompanied by chronic pain, dislocations, fatigue, orthostatic intolerance or multisystem symptoms.

What should I gather before the consultation?

A history of dislocations and sprains, a record of the hypermobility manoeuvres you can perform, previous test results and a complete list of symptoms, including those that appear unrelated to each other.

Is there treatment?

It is a genetic condition with no described cure, but with available management. Conduct focuses on pain control, joint protection, treatment of associated comorbidities and preservation of function, always on an individualized basis.

Mast Cell Activation Syndrome

Reactions involving skin, digestive tract, cardiovascular and nervous systems at once, without allergy testing explaining the picture.

Long COVID

Symptoms persisting months after infection, with multisystem mechanisms under active investigation in the scientific literature.

Sleep Medicine

Assessment of sleep architecture and quality as a structural axis, frequently the element that reorganizes the understanding of a complex case.

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