What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by faulty collagen production or processing. Connective tissues provide structure and support to the entire body, including joints, skin, and organs. In individuals with EDS, these tissues are often weaker, more fragile, or more lax than usual, leading to a range of symptoms and potential complications.
The primary culprit: Hypermobile EDS (hEDS)
While multiple EDS types can involve tissue fragility, the most common type, hypermobile EDS (hEDS), is most strongly linked to pelvic organ prolapse (POP). The defective collagen in hEDS results in generalized joint hypermobility and systemic connective tissue laxity. This laxity extends to the pelvic floor, which is a hammock-like structure of muscles, ligaments, and fascia that supports the bladder, uterus, and rectum. When these supporting structures are weakened and overly flexible, they are unable to provide adequate support, causing the organs to shift downward and bulge into the vaginal canal.
Why hEDS causes prolapse
The mechanism behind hEDS and prolapse is directly related to the compromised collagen. Normal collagen provides a strong, supportive framework. In hEDS, the faulty collagen makes the fascial and ligamentous supports for the pelvic organs too stretchy or weak. This weakness can be exacerbated by daily activities that increase intra-abdominal pressure, such as standing for long periods, lifting, coughing, or even chronic constipation. For individuals with hEDS, symptoms can often begin at a younger age than is typical for prolapse, sometimes even in their 20s, and without common risk factors like pregnancy or menopause.
Other EDS types and their connection to prolapse
While hEDS is the most frequent cause of prolapse in the EDS community, other types of EDS can also present with this complication due to their specific tissue weaknesses. It is important to note that the presentation and severity can vary significantly.
- Classical EDS (cEDS): Characterized by skin hyperextensibility and atrophic scars, cEDS is also associated with tissue fragility. Recurrent hernias and rectal prolapse in childhood are recognized as minor diagnostic criteria for cEDS, indicating systemic tissue weakness. Pelvic organ prolapse is a known, though less common, gynecologic complication.
- Vascular EDS (vEDS): This rare, life-threatening type primarily affects arteries and organs, making them prone to rupture. The defective collagen in vEDS is particularly fragile, and while rarer, uterine prolapse has been reported as a potential complication, though the main risks are more severe vascular and organ issues.
Comparing EDS types and prolapse risk
Feature | Hypermobile EDS (hEDS) | Classical EDS (cEDS) | Vascular EDS (vEDS) |
---|---|---|---|
Prolapse Link | Most frequent connection due to generalized tissue laxity | Associated due to generalized tissue fragility; minor diagnostic criterion includes anal prolapse in childhood | Rarely reported; focus is on vascular rupture risk |
Primary Cause | Laxity and hypermobility of joints and connective tissue | Skin hyperextensibility and abnormal scarring | Arterial and organ fragility |
Prevalence | Most common type of EDS | Estimated at 1 in 20,000 | Approximately 1 in 50,000 |
Pelvic Health Issues | Pelvic organ prolapse, incontinence, and chronic pelvic pain are all common | Possible, but more common issues are fragile skin and joints | Least common type to present with gynecologic issues like prolapse |
Common signs of prolapse with EDS
Understanding the symptoms is the first step toward effective management. Symptoms in hypermobile individuals can be similar to those in the general population but may have a different onset or progression. Common signs include:
- A feeling of pelvic pressure or heaviness, especially after standing or lifting.
- Sensation of a bulge or a “falling out” feeling in the vaginal area.
- Bladder or bowel issues, such as urinary incontinence (leaking with cough or sneeze), urgency, difficulty emptying the bladder, or constipation.
- Lower back or pelvic pain.
- Sexual dysfunction or discomfort.
Management strategies for EDS and prolapse
Managing prolapse in individuals with EDS requires a specialized, multidisciplinary approach, given the underlying connective tissue weakness. Standard treatments may not be as effective, and careful consideration is needed, especially if surgery is discussed.
- Specialized Pelvic Floor Physical Therapy (PT): Traditional PT focused only on strengthening may be insufficient. Specialized PT for hypermobility focuses on stabilization, proprioception (body awareness), and coordinated muscle function. It addresses the deep core and pelvic girdle, which provide essential support.
- Pessary Fitting: A pessary is a removable device inserted into the vagina to support the pelvic organs. For EDS patients, a pelvic floor physical therapist can assist with fitting and management to ensure comfort and effectiveness.
- Lifestyle Modifications: Avoiding activities that place high-impact or excessive strain on the pelvic floor can help manage symptoms. Proper breathing techniques and posture can also help reduce intra-abdominal pressure.
- Addressing Autonomic Dysfunction: Conditions like Postural Orthostatic Tachycardia Syndrome (POTS), which is common in hEDS, can impact bladder function and worsen symptoms. Managing POTS is an integral part of comprehensive care.
- Surgical Considerations: Surgery for prolapse in EDS patients is complex due to fragile tissue that may not hold sutures effectively and a higher risk of recurrence. It is crucial to have a surgeon experienced with connective tissue disorders and to have detailed discussions about the risks and benefits before proceeding.
Conclusion
The link between hypermobile Ehlers-Danlos Syndrome and pelvic organ prolapse is significant and well-documented. For those affected, recognizing that EDS causes prolapse is the first step toward seeking appropriate care. A personalized, multidisciplinary approach focusing on stabilization, specialized physical therapy, and symptom management is key to improving quality of life. Awareness among healthcare providers about this connection is critical for proper diagnosis and effective treatment planning.
Visit the Ehlers-Danlos Society for more information on hypermobility and related conditions.