Hypermobile Ehlers-Danlos Syndrome: Understanding Symptom Onset and Progression

What age does hypermobile EDS start?

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a genetic connective tissue disorder, meaning the predisposition is present from birth. While the genetic basis is lifelong, the age at which symptoms become noticeable and significantly impact an individual varies widely, often manifesting from childhood through early adulthood, and sometimes worsening with age.

Understanding Hypermobile Ehlers-Danlos Syndrome (hEDS)

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common type of Ehlers-Danlos Syndrome, a group of inherited connective tissue disorders. These conditions primarily affect collagen, the most abundant protein in the body, which provides strength and elasticity to skin, joints, blood vessels, and other tissues. In hEDS, the collagen itself may be structurally normal, but there are issues with its organization or quantity, leading to tissues that are more stretchy and fragile than they should be. This widespread connective tissue laxity results in a spectrum of symptoms, primarily affecting the musculoskeletal system but also impacting multiple other body systems.

The Spectrum of Symptom Onset

Unlike some conditions that have a distinct "starting age," hEDS symptoms can emerge at various points throughout an individual's life, often becoming more pronounced or problematic over time due to cumulative stress and age-related changes.

• Infancy and Early Childhood: While often not formally diagnosed at this stage, some subtle signs may be present. Infants might exhibit hypotonia (low muscle tone), leading to developmental delays in milestones such as sitting or walking. They may also present with frequent joint dislocations or subluxations that are initially attributed to clumsiness. Early indicators can include highly flexible joints, a tendency towards flat feet, or frequent sprains.
• Childhood and Adolescence: This is a common period for symptoms to become more apparent and cause significant issues. Children and adolescents with hEDS may be described as "double-jointed" or unusually flexible. They often experience:
  • Recurrent joint pain and stiffness (often mislabeled as "growing pains").
  • Frequent sprains, strains, and dislocations, particularly of shoulders, knees, ankles, and fingers.
  • Chronic fatigue that isn't relieved by rest.
  • Increased bruising and slow wound healing.
  • Proprioception deficits, leading to clumsiness, poor coordination, and frequent falls.
  • Early signs of autonomic dysfunction, such as dizziness upon standing (orthostatic intolerance) or rapid heart rate (Postural Orthostatic Tachycardia Syndrome - POTS).
• Adulthood: For many, symptoms may become more debilitating in adulthood, particularly after periods of increased physical stress, injury, or hormonal changes (e.g., pregnancy). Chronic widespread pain, severe fatigue, and multi-systemic issues (such as gastrointestinal problems, bladder dysfunction, or mast cell activation syndrome) often become more prominent. The cumulative effect of joint instability can lead to early onset osteoarthritis and persistent pain. Diagnosis often occurs in adulthood after years of unexplained symptoms and multiple specialist visits.

Why Symptoms May Evolve Over Time

The variable onset and progression of hEDS symptoms are influenced by several factors:

• Cumulative Microtrauma: Over years, the continuous stress on lax connective tissues from everyday movements and activities can lead to progressive joint damage and chronic pain.
• Hormonal Influences: Fluctuations in hormones, particularly estrogen, can impact collagen elasticity. This is why many individuals, especially women, report a worsening of symptoms during puberty, pregnancy, or menopause.
• Lifestyle Factors: Activity levels, occupational demands, and injury history can all contribute to how and when symptoms become problematic.
• Diagnostic Challenges: hEDS is often underdiagnosed or misdiagnosed due to its varied presentation and the lack of a specific genetic marker for hypermobile type. This delay in diagnosis means that symptoms may have been present for years before they are properly understood.

Key Indicators and Early Recognition

Recognizing hEDS early can significantly improve management and quality of life. Key indicators for suspicion include:

• Generalized Joint Hypermobility: Assessed using the Beighton Score, which evaluates the flexibility of specific joints.
• Musculoskeletal Manifestations: Chronic pain, joint instability, frequent dislocations/subluxations, and soft tissue injuries.
• Skin Involvement: Soft, velvety skin, easy bruising, or impaired wound healing.
• Family History: A strong family history of hypermobility or other hEDS-related symptoms.
• Multi-systemic Symptoms: Including chronic fatigue, dysautonomia (POTS, orthostatic intolerance), gastrointestinal dysmotility, pelvic floor dysfunction, and mast cell activation symptoms.

Management and Living with hEDS

While there is no cure for hEDS, symptoms can be effectively managed with a comprehensive, multidisciplinary approach. Early diagnosis allows for proactive strategies to minimize complications and improve daily functioning. Key aspects of management include:

• Physical Therapy: Tailored exercises to strengthen surrounding muscles, improve proprioception (body awareness), and enhance joint stability without overstretching. Low-impact activities are often recommended.
• Pain Management: A combination of pharmacological and non-pharmacological approaches, including physical therapy, occupational therapy, and psychological support.
• Occupational Therapy: To adapt daily activities and use assistive devices as needed.
• Lifestyle Modifications: Strategies for energy conservation, injury prevention, and stress management.
• Medical Management: Addressing specific systemic manifestations (e.g., POTS, GI issues) with appropriate medical specialists.

Conclusion

Hypermobile Ehlers-Danlos Syndrome is a condition present from conception, but its clinical expression is highly variable. While the genetic predisposition is always there, the age at which symptoms become noticeable and problematic spans from infancy through adulthood, often intensifying over time. Understanding this spectrum of onset and recognizing the signs and symptoms early are crucial for timely diagnosis and the implementation of effective management strategies to improve the quality of life for individuals living with hEDS.