Hypermobile Ehlers-Danlos Syndrome (hEDS): Diagnosis Criteria, Process, and Importance

How to diagnose hEDS?

Diagnosing Hypermobile Ehlers-Danlos Syndrome (hEDS) is a clinical process based on a specific set of criteria established by the International Ehlers-Danlos Society in 2017, requiring a thorough evaluation by a healthcare professional, often a geneticist or rheumatologist.

Understanding Hypermobile Ehlers-Danlos Syndrome (hEDS)

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a hereditary disorder of connective tissue, primarily affecting collagen, which provides structure and strength to tissues throughout the body. Unlike other types of Ehlers-Danlos Syndrome (EDS), hEDS does not currently have a specific genetic marker, making its diagnosis purely clinical. This means that diagnosis relies on a detailed assessment of an individual's symptoms, physical signs, and family history, rather than a definitive blood test. Key features include generalized joint hypermobility, chronic pain, fatigue, and a range of systemic manifestations affecting various body systems.

The 2017 International Diagnostic Criteria for hEDS

The diagnostic framework for hEDS is structured around three main criteria, all of which must be met for a definitive diagnosis, alongside the exclusion of other possible conditions.

Criterion 1: Generalized Joint Hypermobility (GJH)

This is assessed using the Beighton Score, a nine-point scale that evaluates the flexibility of specific joints. A score of 0-9 is assigned based on the ability to perform the following maneuvers:

• 1 point: Passive dorsiflexion of the 5th metacarpophalangeal joint (pinky finger) beyond 90 degrees (each hand, 2 points total).
• 1 point: Passive apposition of the thumb to the forearm (each hand, 2 points total).
• 1 point: Hyperextension of the elbow beyond 10 degrees (each arm, 2 points total).
• 1 point: Hyperextension of the knee beyond 10 degrees (each leg, 2 points total).
• 1 point: Forward flexion of the trunk with palms resting flat on the floor with knees fully extended (1 point total).

Score Thresholds for GJH:

• Pre-pubertal (children and adolescents up to 18 years): Beighton score of ≥ 6/9.
• Adults (18-50 years): Beighton score of ≥ 5/9.
• Older Adults (over 50 years): Beighton score of ≥ 4/9.

It's important to note that GJH must be present. If the Beighton score alone is insufficient but there is historical evidence of GJH (e.g., recurrent dislocations, childhood hypermobility), further assessment is needed.

Criterion 2: Systemic Manifestations and Family History

This criterion has two parts, A and B, and at least one of these must be met.

• Part A: Systemic Manifestations of a More Generalized Connective Tissue Disorder At least five of the following 12 manifestations must be present:

  • Skin hyperextensibility and/or velvety skin: Soft, doughy texture; easily stretched.
  • Unexplained striae: Stretch marks not associated with pregnancy or significant weight changes.
  • Bilateral piezogenic papules of the heel: Small, painful fatty lumps that protrude through the dermis when standing.
  • Recurrent or multiple dislocations/subluxations: Without major trauma, affecting at least two distinct joints on different occasions, or objective medical confirmation of at least two spontaneous vertebral subluxations.
  • Chronic widespread pain: For at least 3 months, not otherwise explained.
  • Chronic fatigue: For at least 3 months, not otherwise explained.
  • Prolapse of rectum, uterus, or bladder: Before age 50, without other explanation.
  • Dental crowding and high or narrow palate: Requiring orthodontic intervention.
  • Abnormal scarring: Atrophic, papyraceous (thin, crinkly), or keloid scarring.
  • Arachnodactyly: Long, slender fingers and toes (positive wrist sign and/or thumb sign).
  • Mitral valve prolapse: Mild or greater, on echocardiogram.
  • Gastrointestinal dysmotility: Functional GI disorders (e.g., irritable bowel syndrome, gastroparesis).

• Part B: Positive Family History A first-degree relative (parent, sibling, child) independently meets the current diagnostic criteria for hEDS.

Criterion 3: Exclusion of Other Diagnoses

This is a crucial step to ensure the symptoms are not better explained by another condition. The diagnosis of hEDS is one of exclusion. This involves ruling out:

• Other Ehlers-Danlos Syndrome types: Especially those with known genetic causes (e.g., classical EDS, vascular EDS, kyphoscoliotic EDS) through genetic testing.
• Other generalized connective tissue disorders: Such as Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, or osteogenesis imperfecta, which may share some features.
• Autoimmune conditions: That can cause joint pain or fatigue.
• Generalized skeletal dysplasias: Or other conditions that can cause generalized joint hypermobility.

If another diagnosis better explains the symptoms, or if the individual has a confirmed diagnosis of another EDS type, then hEDS is not diagnosed.

The Diagnostic Process: What to Expect

The journey to an hEDS diagnosis typically involves a multi-faceted approach:

• Initial Consultation: Often begins with a primary care physician who may suspect a connective tissue disorder based on your symptoms and history.
• Referral to Specialists: You will likely be referred to specialists, most commonly a clinical geneticist or a rheumatologist, who are experienced in diagnosing complex systemic conditions.
• Detailed Medical History: The specialist will take an exhaustive history, including the onset and progression of your symptoms, a review of all body systems, and a comprehensive family medical history, looking for patterns of hypermobility, pain, fatigue, and other systemic issues.
• Thorough Physical Examination: This is where the Beighton score will be assessed, along with an evaluation of your skin, joint stability, posture, and other physical signs consistent with hEDS.
• Differential Diagnosis and Exclusion: To rule out other conditions, various tests may be ordered, including:
  • Genetic testing: A "collagen panel" or broader genetic testing to exclude other types of EDS or similar genetic disorders.
  • Imaging studies: X-rays, MRI, or ultrasound to assess joint integrity or rule out other musculoskeletal issues.
  • Blood tests: To rule out inflammatory conditions or other systemic diseases.
• Multidisciplinary Team Assessment: In some cases, a diagnosis may require input from a team of specialists, which could include a cardiologist (for cardiac evaluation), a gastroenterologist (for digestive issues), a neurologist (for dysautonomia or neurological symptoms), and a physical therapist (for functional assessment and management).

Why a Professional Diagnosis is Crucial

Receiving a formal diagnosis of hEDS, while challenging, is a critical step for several reasons:

• Validation of Symptoms: It provides an explanation for a constellation of often disparate and confusing symptoms, validating the patient's experiences.
• Tailored Management Plan: A diagnosis allows healthcare providers to develop a targeted and individualized management plan. This often involves physical therapy focusing on stability and proprioception, pain management strategies, lifestyle modifications, and the management of co-occurring conditions (e.g., dysautonomia, mast cell activation syndrome).
• Access to Resources: It enables access to appropriate medical care, specialized therapies, support groups, and educational resources dedicated to hEDS.
• Genetic Counseling: While hEDS doesn't have a known gene, understanding its hereditary pattern (autosomal dominant) allows for genetic counseling regarding family planning and informing relatives.
• Preventing Misdiagnosis and Inappropriate Treatment: A correct diagnosis prevents mislabeling of symptoms as psychosomatic or the application of ineffective or potentially harmful treatments.

Living with hEDS: Beyond Diagnosis

Diagnosis is the beginning, not the end, of the hEDS journey. Effective management typically focuses on conservative strategies to improve quality of life and manage symptoms. This includes:

• Physical Therapy: Emphasizing strengthening muscles around joints for stability, improving proprioception, and gentle cardiovascular exercise.
• Pain Management: Utilizing a range of approaches from medication to complementary therapies and lifestyle adjustments.
• Lifestyle Modifications: Pacing activities, avoiding aggravating movements, ergonomic adjustments, and adequate rest.
• Addressing Co-occurring Conditions: Managing issues like dysautonomia (POTS), gastrointestinal problems, or mast cell activation.

Living with hEDS requires a proactive, informed approach and a strong partnership with a knowledgeable healthcare team.