Does a patient with a possible diagnosis of Hypermobile Ehlers-Danlos Syndrome (HEDS) or Ehlers-Danlos Syndrome (EDS) based on a Beighton score, require genetic testing to investigate the cause of her non-specific complaints?

From the Guidelines

I strongly recommend referring the patient for a comprehensive evaluation at a specialized EDS clinic, rather than immediate genetic testing, to assess for hypermobile Ehlers-Danlos Syndrome (hEDS) or other EDS subtypes, given the positive Beighton score from physical therapy. While genetic testing can identify some EDS subtypes, hypermobile EDS specifically lacks a definitive genetic marker and is diagnosed clinically using specific criteria 1. The evaluation should include a detailed family history, physical examination, and assessment for systemic manifestations. According to the 2012 evaluation criteria for EDS, hypermobility type, diagnosis is based on joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale, soft or velvety skin, and absence of skin or soft tissue fragility 1.

Given the patient's nonspecific complaints and hypermobility findings, a comprehensive evaluation is warranted to direct appropriate management strategies and potentially prevent complications. The evaluation process may take several months from referral to results. It's also important to note that genetic testing, if indicated, should focus on genes associated with various EDS subtypes (COL5A1, COL5A2, COL3A1, etc.) and be performed at a referral center with experience in genetically mediated arteriopathies and availability of medical genetics specialists 1.

Key aspects of the evaluation include:

• Detailed family history to assess for potential inherited disorders
• Physical examination to evaluate for features characteristic of connective tissue disorders
• Assessment for systemic manifestations, such as joint pain, fatigue, and skin elasticity
• Potential genetic testing, if indicated, to evaluate for genes associated with EDS subtypes.

From the Research

Hypermobile Ehlers-Danlos Syndrome (HEDS) and Genetic Testing

• The Beighton score is used to confirm or exclude hyperlaxity, with a score of 5 or more indicating generalized joint hypermobility in adults 2.
• A diagnosis of HEDS is based on clinical criteria, including joint hypermobility, skin hyperextensibility, and tissue fragility, as well as the presence of several comorbid conditions 3.
• The genetic basis of HEDS is still unknown, and diagnosis relies solely on clinical examination and criteria 4.

Referral for Genetic Testing

• Patients with suspected HEDS should be seen in a department of genetics, physical medicine and rehabilitation, or rheumatology to avoid diagnostic odyssey and help prevent disease complications 2.
• Genetic testing may be considered as part of the diagnostic process, although the molecular aetiology of HEDS remains unknown 4.
• The Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study is expected to increase knowledge of the molecular genetic basis of HEDS in the near future 4.

Physical Therapy and Management

• Physical therapy techniques are regularly prescribed in HEDS and are appreciated by patients, with benefits seen in pain, proprioception, and quality of life 5.
• Physiotherapy programs can range from 4 to 8 weeks and may include various interventions, such as inspiratory muscle training, to improve functional exercise capacity and quality of life 5.
• Management of HEDS is poorly systematized due to the absence of controlled clinical trials or good clinical practice recommendations, highlighting the need for further research 2.