Ehlers-Danlos Syndromes (EDS) are a group of inherited conditions affecting connective tissue throughout the body. While symptoms may appear or worsen later in life, EDS is a genetic disorder present from birth. This article explores why EDS manifestations might emerge or intensify over time, often leading to an adult diagnosis.
Understanding Ehlers-Danlos Syndromes
Ehlers-Danlos Syndromes are genetic conditions impacting connective tissue, which provides structural support to skin, joints, blood vessels, and organs. These syndromes arise from specific genetic changes affecting the production or processing of collagen, a protein vital for tissue strength and elasticity.
Various types of EDS exist, each linked to different genetic mutations. For example, classical EDS often involves mutations in genes for type V and type I collagen. While many types have identified genetic causes, the specific genetic basis for hypermobile EDS (hEDS), the most common type, is still under investigation. Regardless of the type, the underlying genetic alteration means connective tissue is inherently weaker or more flexible than typical.
Why Symptoms Emerge or Worsen Over Time
Although EDS is present from birth, symptoms often become more noticeable or intensify with age due to several factors. Cumulative wear and tear on joints and ligaments plays a role, as the body’s fragile connective tissue is subjected to years of repetitive movements and minor injuries. This ongoing stress can lead to increased joint instability, chronic pain, and early onset of conditions like osteoarthritis. Even a lifetime of routine activities can gradually degrade the compromised tissues.
Hormonal fluctuations also influence EDS symptom severity. Changes during puberty, pregnancy, and menopause can significantly affect connective tissue laxity. Many individuals with EDS report worsening symptoms during and after menopause.
The natural progression of the condition also contributes to symptom evolution. While joint hypermobility might appear to decrease with age as joints stiffen, this often signals a shift towards chronic stiffness, muscle tension, and increased joint degeneration. Some types, like vascular EDS, carry increasing risks of serious complications such as arterial dissections or organ rupture over time. The systemic nature of EDS means that various body systems can be impacted, leading to a broader range of issues as years pass.
The Journey to a Late Diagnosis
Receiving an EDS diagnosis can be a lengthy process, often extending into adulthood, partly because its widespread symptoms can mimic other conditions. Individuals are frequently misdiagnosed with conditions like fibromyalgia, chronic fatigue syndrome, anxiety, or depression before EDS is considered. This diagnostic delay can average over 10 years and involve numerous doctor visits.
A lack of awareness about EDS among healthcare professionals further contributes to delayed diagnoses. Many medical providers may not recognize the varied symptoms as part of a single underlying condition. The inherent variability of EDS manifestations, even within the same type, also makes it challenging for doctors to identify consistent patterns.
Additionally, the “invisible” nature of some symptoms means affected individuals may appear outwardly healthy despite significant pain and fatigue. Patients might also dismiss their own symptoms as normal aches or pains until they become debilitating. The diagnostic process typically involves a detailed medical history, a physical examination assessing joint hypermobility and skin characteristics, and sometimes genetic testing for specific EDS types.
Living with EDS After a Late Diagnosis
Despite the challenges of a delayed diagnosis, receiving an Ehlers-Danlos Syndromes diagnosis later in life can bring significant benefits. It often provides validation for years of unexplained symptoms, helping individuals understand their health challenges and feel more in control of their health journey. A diagnosis also facilitates access to appropriate medical care and aids in symptom management and future planning.
Management of EDS focuses on addressing specific symptoms, as there is no cure for the underlying genetic condition. This often involves a multidisciplinary approach, including physical therapy to strengthen muscles around joints and improve stability, and pain management strategies. Lifestyle adjustments, such as avoiding high-impact activities that strain joints, are frequently recommended. However, tailored exercise, like swimming or Pilates, can help maintain fitness.
The approach to living with EDS is highly individualized, aiming to improve quality of life and reduce the risk of complications. Support groups and connecting with others who share similar experiences can also provide valuable emotional and practical assistance.