Ehlers-Danlos Syndromes (EDS) are a group of inherited disorders that affect connective tissues throughout the body. These conditions arise from genetic changes that impact the proper formation and function of collagen, a primary component of connective tissue. EDS can manifest with a wide range of symptoms, such as joint hypermobility, unusually stretchy skin, and tissue fragility.
Typical Diagnostic Ages
The age at which an Ehlers-Danlos Syndrome diagnosis is typically made varies considerably, largely depending on the specific type of EDS and the severity of symptoms. Many individuals receive a diagnosis during childhood or adolescence, particularly when symptoms like frequent joint dislocations, chronic pain, or easily bruised skin become noticeable.
Some types of EDS, such as hypermobile EDS (hEDS), which is the most common form, might not be diagnosed until later in adulthood. This delay can occur because hEDS symptoms can be non-specific or initially subtle, and medical professionals may not readily recognize the connection to a connective tissue disorder. In contrast, severe forms like vascular EDS (vEDS) are sometimes identified earlier in life, due to the presence of life-threatening complications such as fragile blood vessels that can lead to arterial rupture.
Factors Influencing Diagnosis
Several factors contribute to the wide variability in diagnostic age for Ehlers-Danlos Syndromes. The specific type of EDS plays a significant role, as symptoms manifest differently across the 13 recognized types. Some types present with more overt or severe signs early on, while others might have milder, more generalized symptoms that develop gradually over time.
The lack of widespread awareness among medical professionals is another substantial factor, often leading to misdiagnoses or symptoms being dismissed as unrelated issues like generalized pain or anxiety. Many individuals embark on a “diagnostic odyssey,” enduring years or even decades of seeking answers before receiving an accurate EDS diagnosis. This journey is further complicated by the fact that EDS symptoms can overlap with other conditions, making it challenging for healthcare providers to identify the underlying cause.
The Diagnostic Process
Diagnosing Ehlers-Danlos Syndromes typically involves a comprehensive clinical evaluation, beginning with a detailed medical and family history. Physicians look for patterns of symptoms and inquire about any family members with similar issues, as many EDS types are inherited. A physical examination is important, assessing for classic signs such as joint hypermobility, often measured using the Beighton Score, and evaluating skin characteristics like extensibility, texture, and unusual scarring.
For most types of EDS, genetic testing is used to confirm the diagnosis by identifying specific genetic mutations that cause the condition. This testing is particularly important for types like vascular EDS, where identifying the causal gene variant is important for prognosis and management. However, for hypermobile EDS, diagnosis remains primarily clinical, as a specific genetic marker has not yet been identified. Specialized medical geneticists often play a central role in coordinating the diagnostic process and confirming the specific EDS subtype.
Why Diagnosis Matters
Receiving an Ehlers-Danlos Syndrome diagnosis, regardless of the age it occurs, offers significant benefits for affected individuals. A diagnosis provides validation for a person’s chronic symptoms, which can be a great relief after years of unexplained health issues. It also enables the implementation of appropriate medical management strategies tailored to the specific EDS type, including physical therapy, pain management, and preventative measures to mitigate potential complications.
An accurate diagnosis also facilitates access to specialized care, genetic counseling for family planning purposes, and connection with support groups where individuals can share experiences and resources. This comprehensive approach to care can significantly improve quality of life and help prevent the progression of symptoms or the onset of severe complications through informed medical interventions.