Visceroptosis and Hypermobile Ehlers-Danlos Syndrome

A possible gastrointestinal consequences of ligament laxity?

What is it visceroptosis?

Visceroptosis refers to the prolapse of one (or more) of the abdominal organs below their natural position. Individuals with visceroptosis experience this “dropping” of their organs when upright but not when lying flat. Symptoms are highly variable depending on the person and which organs are involved. However, some common ones include abdominal pain, severe lower abdominal bloating, pain that worsens with eating, flank pain, constipation/diarrhea, nausea/vomiting, and symptoms that improve when lying down or when the GI tract is empty.  

Factors that contribute to visceroptosis can include loss of muscular tone, relaxation of the ligaments that typically hold the abdominal organs in place, previous surgery or trauma. Visceroptosis has been known to affect the stomach (gastroptosis), small intestine (enteroptosis), large intestine (coloptosis), and kidneys (nephroptosis). 

Diagnosis and Treatment

Diagnosing visceroptosis involves upright x-rays, which is not a standard approach. Often x-rays are done using an oral barium contrast to enhance the imaging. Gastroptosis (displacement of the stomach from its normal position) and enteroptosis (displacement of the small intestine) can be diagnosed via a small bowel follow through with upright x-rays, coloptosis diagnosis requires a barium enema with upright x-rays, and nephroptosis uses intravenous urography with standing images. 

Unfortunately, there is no straightforward treatment for visceroptosis and medical intervention depends heavily on the organs affected and the severity of symptoms experienced by the patient. In some cases the prolapsed organ may be sutured back into place (called a nephropexy or colopexy). But these surgeries often fail with the organ coming un-sutured and collapsing once again. If the entire colon has prolapsed, the patient may benefit from an ileostomy to bypass the colon entirely. At the moment there is no surgical intervention for gastroptosis or enteroptosis.

Some people find some relief using various methods of symptom management including eating smaller meals, lying down after eating, consuming more liquids/easy to digest foods, and wearing an abdominal binder or support belt for discomfort from bloating. 

Connection to Ehlers-Danlos syndrome 

In the context of Ehlers-Danlos Syndrome (EDS), particularly the hypermobile subtype (hEDS), patients often experience gastrointestinal symptoms. hEDS is characterized by joint laxity, where ligaments, the tissues holding joints together, exhibit increased flexibility. This raises the question, can laxity extend beyond joints to potentially affect ligaments holding abdominal organs in place? Is visceroptosis more common in hEDS?

Awareness of visceroptosis in the hEDS space is starting to grow. A few studies so far have highlighted the relationship between these conditions showing ptosis of the transverse colon, gastroptosis, and recurring and multiple visceral ptoses in a few hEDS patients, highlighting that it may co-occur with other comorbidities such as POTS or gastroparesis. A recent conference abstract on a small sample of people with functional GI symptoms highlighted visceroptosis in hEDS patients, showing three out of nine hEDS patients with GI symptoms had visceroptosis by dynamic imaging.

Although rare, visceroptosis is likely more common than we think. A misunderstood consequence of an already under-researched condition (hEDS) means that most patients have never heard of the condition and most doctors would never think to look for it. Increased awareness and education about visceroptosis can help lead to a quicker and earlier diagnosis. Although there is no cure, having an answer for the debilitating GI/urological symptoms that accompany visceroptosis can be incredibly validating for patients. 

More about our special guest: Ada Port is a first year medical student at Indiana University School of Medicine who has hEDS. Since her diagnosis in 2022 she has undergone 4 major surgeries and has been diagnosed with other comorbid conditions including visceroptosis and occult tethered cord syndrome. Ada is a proud advocate for the EDS and ostomy communities and hopes to inspire others with chronic illnesses to follow their goals because she believes the world desperately needs more patient scientists. Her current plan is to become a pediatric geneticist where she hopes to continue to advocate for more research, awareness, and earlier diagnosis of EDS. You can follow Ada on instagram at @ada.ostomy.

References:

https://pubmed.ncbi.nlm.nih.gov/22781752/

https://www.eventscribe.net/2022/ACG-Posters/fsPopup.asp?PosterID=515251&mode=posterinfo

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773269/

https://journals.lww.com/ajg/fulltext/2018/10001/ehlers_danlos_syndrome_type_iii__eds__and.469.aspx