What are the key clinical features to consider when diagnosing Ehlers-Danlos Syndromes in a primary care setting?

Key clinical features to consider when diagnosing Ehlers-Danlos Syndromes (EDS) in primary care include:

• Joint hypermobility: This is a hallmark feature, often presenting as unusually flexible joints that may cause recurrent joint pain or dislocations. The Beighton score is commonly used to assess this hypermobility in a clinical setting ¹ (Kumar and Lenert, 2017).
• Skin abnormalities: Patients may exhibit soft, velvety, and hyperextensible skin that bruises easily. Some EDS subtypes, such as the vascular type, show thin, translucent skin with visible veins ¹ (Adam et al., 1993).
• Chronic musculoskeletal pain: Persistent pain related to joint instability and soft tissue fragility is common and may be overlooked in primary care ¹ (Kumar and Lenert, 2017).
• Family history: A positive family history of EDS or related connective tissue disorders supports the diagnosis and should be actively sought ¹.
• Systemic features: These include easy bruising, delayed wound healing, and in some subtypes, vascular fragility leading to arterial rupture or organ rupture, which are critical to identify early, especially in vascular EDS (Adam et al., 1993).
• Gastrointestinal and autonomic symptoms: In hypermobile EDS, patients may report GI dysmotility, autonomic dysfunction (e.g., postural tachycardia), and immune-related symptoms, which can aid in diagnosis and management (Aziz et al., 2025).

In summary, primary care clinicians should focus on a combination of joint hypermobility, characteristic skin features, chronic pain, family history, and systemic signs including vascular and autonomic symptoms to identify EDS. Early recognition is essential to guide appropriate referral and management ¹ (Adam et al., 1993; Kumar and Lenert, 2017; Aziz et al., 2025).