While a syndrome that causes joint flexibility doesn’t sound like it would impact the bladder, it actually can mimic IC symptoms for years. Understanding Ehlers-Danlos Syndrome (EDS) and how it relates to the bladder is important for IC patients.

What is Ehlers-Danlos Syndrome?

Simply put, EDS is a group of genetic disorders that affect the con- nective tissues in our joints, skin, blood vessels and organs.(1) Connective tissue is a complex mix of proteins (i.e. collagen) providing strength and elasticity. EDS can wreak havoc in different ways for different patients ranging from mildly loose joints to life-threatening complications.(2)

There are 13 types of EDS. About 1 in 5,000 people worldwide have EDS, but some of the subtypes are rare. While each has its own characteristics and complications, all of them result in highly flexible joints, also known as hypermobility.(3) Hypermobility can lead to chronic joint pain, joint dislocation, early onset arthritis and slow wound healing.

EDS is a genetic condition. Researchers have identified 19 different genes that are associated. The genes most affected are those that encode the body’s supply of collagen. The mutated collagen gene leads to structural weakness that then causes issues.

People with the gene mutations (whether they are silent carriers, have mild symptoms or severe symptoms) have a 50% chance of passing the gene on to their children.

While there is no cure for EDS, there are effective treatments to manage its symptoms.

What are the most common subtypes of EDS and their symptoms?

The most common subtype of EDS is simply called “classic EDS.” Its main symptoms include highly flexible joints, stretchy skin and fragile skin. Even within the subtypes, though, not all patients have all it symptoms. Some patients may have hypermobility but not have skin symptoms. Other symptoms include: skin that bruises easily, muscle pain, muscle fatigue, redundant skin folds on the eyes, benign growth on pressure areas (like the elbows and knees) and heart valve problems. Many doctors will perform an echocardiogram along with genetic tests and a skin biopsy during diagnosis.

Vascular EDS is another subtype that can cause heart problems. It weakens the aorta as well as the arteries throughout the body. If one of these large blood vessels rupture, it can be fatal. Vascular EDS can also weaken the walls of the uterus or large intestines. Patients often have a thin nose, thin upper lip, small earlobes and prominent eyes. Their skin is typically thin and translucent and bruises easily.

The final more common subtype is Hypermobile EDS (hEDS). Its symptoms include loose joints, easy bruising, muscle pain, muscle fatigue, chronic pain, chronic degenerative joint disease, early onset osteoarthritis, as well as heart valve problems. Since hEDS does not yet have a gene identified with it, genetic testing isn’t available. Instead, doctors rely on the presence of three criteria: joint hypermobility, chronic muscle and joint pain (along with a family history of EDS) and an exclusion of any other causes.(7)

How does EDS affect the bladder?

It makes sense that EDS could affect the urinary tract. Connective tissue in the bladder helps facilitate the movement needed to expel body

waste. When that tissue is abnormal it can disrupt the function resulting in bladder incontinence, overactive bladder and bladder retention.(4)

Dysfunction in connective tissues can also lead to uterine, vaginal or bladder prolapse that can cause bladder symptoms.4 Patients with EDS are more than twice as likely to develop urinary incontinence than those without EDS.(5)

Pelvic floor dysfunction is common in EDS and patients can benefit from pelvic floor physical therapy.4 Those with hEDS in particular are also likely to develop bowel symptoms.6 The impacted connective tissue in the bowel can cause motility issues and constipation. In some extreme cases, it can even cause a paralysis of the digestive tract.(6)

References

  1. Malcolm E. What is EDS? Ehlers-Danlos News. Updated Oct. 10, 2019.
  2. Mayo Clinic Staff. Ehlers-Danlos Syndrome. Mayo Clinic. Oct. 13, 2017.
  3. Kahn A. Ehlers-Danlos Syndrome: What Is It and How Is It Treated? Healthline. Updated Sept. 28, 2018.
  4. Chapman M. Bladder Issues in EDS. Ehlers-Danlos News. Updated Aug. 19, 2020.
  5. Arunkalaivanan AS, et. al., Prevalence of Urinary and Faecal Incontinence Among Female Members of the Hypermobility Syndrome Association. J Obstet Gynaecol. Feb. 2009 Volume 29, No. 2.
  6. Bladder and Bowel Community. Ehlers-Danlos Syndrome Symptoms and Treatments.
  7. Ehlers-Danlos News. Hypermobile EDS. Updated Oct. 22, 2019.

Last edited:  12/27/2020 – JHO